Ingheritrd metabolic disorders of liver
| Symptoms | Signs |
|---|---|
| Coma, seizures | Ascites, jaundice |
| Developmental delay / regression | Hepatomegaly, splenomegaly |
| Growth failure | Kayser-Fleischer rings (eyes) |
| Hyperammonemia, hypoglycemia | Rickets |
| Recurrent vomiting | Chronic liver disease features |

| Type | Enzyme Defect | Gene | Key Features |
|---|---|---|---|
| GSD Type I (von Gierke) | Glucose-6-phosphatase | G6PC | Severe hypoglycemia, hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia; risk of hepatic adenomas → HCC |
| GSD Type III (Cori/Forbes) | Debranching enzyme | AGL | Moderate hypoglycemia, hepatomegaly, myopathy; liver disease often improves with age |
| GSD Type IV (Andersen) | Branching enzyme | GBE1 | Accumulation of amylopectin in hepatocytes (PAS-positive inclusions); macronodular cirrhosis; most die within 3 years without treatment; LT corrects metabolic error but amylopectin may persist in heart (cardiomyopathy) |


| Step | Action |
|---|---|
| 1 | Detailed history: family history of consanguinity, infant deaths, food triggers |
| 2 | Initial labs: LFTs, coagulation, glucose, ammonia, lactate, amino acids (plasma and urine), organic acids (urine) |
| 3 | Obtain samples during acute episode - many abnormalities normalize between episodes; freeze samples |
| 4 | Liver biopsy: standard histology + frozen sample for biochemical assay + EM for organelle changes |
| 5 | Molecular genetic testing for specific genotypic confirmation |
| Disease | Defect | Inheritance | Key Liver Feature | Hallmark Finding | Treatment |
|---|---|---|---|---|---|
| α1-AT Deficiency | α1-AT misfolding | AR | Neonatal cholestasis → cirrhosis | PAS+ diastase-resistant globules | Supportive; LT |
| Hemochromatosis | HFE / hepcidin pathway | AR | Cirrhosis, HCC | Prussian blue iron staining | Phlebotomy |
| Wilson Disease | ATP7B (copper ATPase) | AR | Fatty liver → ALF → cirrhosis | KF rings; low ceruloplasmin; high 24h urinary Cu | Penicillamine / Trientine / Zinc; LT for ALF |
| GSD Type I | Glucose-6-phosphatase | AR | Hepatomegaly, adenomas → HCC | Hypoglycemia + lactic acidosis | Cornstarch diet |
| GSD Type IV | Branching enzyme | AR | Macronodular cirrhosis | Amylopectin deposits (PAS+) | LT |
| Tyrosinemia Type 1 | FAH | AR | ALF / cirrhosis / HCC | Elevated succinylacetone (urine) | Nitisinone (NTBC) + diet |
| CDG Type Ib | Phosphomannose isomerase | AR | Congenital hepatic fibrosis | Abnormal transferrin IEF | Oral mannose |
| PCT (porphyria) | Uroporphyrinogen decarboxylase | Variable | HCC risk | Photosensitive blisters | Phlebotomy / hydroxychloroquine |
Create a presentatmake a presentation max 30 slides with all the interited metabolic disorders of liver except wilson and hemochromatosis
mkdir -p /tmp/workspace/metabolic-liver-pptx && ls /tmp/workspace/
~/metabolic-liver-pptx/create_pptx.py
from pptx import Presentation
from pptx.util import Inches, Pt, Emu
from pptx.dml.color import RGBColor
from pptx.enum.text import PP_ALIGN, MSO_ANCHOR
from pptx.util import Inches, Pt
import copy
prs = Presentation()
prs.slide_width = Inches(13.333)
prs.slide_height = Inches(7.5)
blank_layout = prs.slide_layouts[6]
# ─────────────── COLOUR PALETTE ───────────────
DARK_TEAL = RGBColor(0x00, 0x5C, 0x6A) # header background
MID_TEAL = RGBColor(0x00, 0x7D, 0x8E) # accent bar
LIGHT_TEAL = RGBColor(0xE0, 0xF5, 0xF7) # body background
AMBER = RGBColor(0xF5, 0xA6, 0x23) # highlight accent
WHITE = RGBColor(0xFF, 0xFF, 0xFF)
DARK_TEXT = RGBColor(0x1A, 0x1A, 0x2E)
MID_GREY = RGBColor(0x55, 0x65, 0x75)
RED_ACCENT = RGBColor(0xC0, 0x39, 0x2B)
GREEN_ACC = RGBColor(0x1E, 0x87, 0x5E)
# ─────────────── HELPER FUNCTIONS ───────────────
def add_rect(slide, x, y, w, h, fill_rgb, transparency=0):
shape = slide.shapes.add_shape(1, Inches(x), Inches(y), Inches(w), Inches(h))
shape.fill.solid()
shape.fill.fore_color.rgb = fill_rgb
shape.line.fill.background()
return shape
def add_textbox(slide, text, x, y, w, h,
font_size=18, bold=False, color=DARK_TEXT,
align=PP_ALIGN.LEFT, italic=False, wrap=True, v_anchor=MSO_ANCHOR.TOP):
tb = slide.shapes.add_textbox(Inches(x), Inches(y), Inches(w), Inches(h))
tf = tb.text_frame
tf.word_wrap = wrap
tf.vertical_anchor = v_anchor
tf.margin_left = Pt(2)
tf.margin_right = Pt(2)
tf.margin_top = Pt(2)
tf.margin_bottom = Pt(2)
p = tf.paragraphs[0]
p.alignment = align
run = p.add_run()
run.text = text
run.font.size = Pt(font_size)
run.font.bold = bold
run.font.italic = italic
run.font.color.rgb = color
run.font.name = "Calibri"
return tb, tf
def add_bullet_slide(slide, title, bullets, sub_col2=None):
"""Standard content slide with header bar and bullet list (optionally 2-col)."""
# BG
add_rect(slide, 0, 0, 13.333, 7.5, LIGHT_TEAL)
# Top header bar
add_rect(slide, 0, 0, 13.333, 1.1, DARK_TEAL)
# Accent stripe
add_rect(slide, 0, 1.1, 13.333, 0.06, AMBER)
# Title text
add_textbox(slide, title, 0.35, 0.1, 12.5, 0.95,
font_size=30, bold=True, color=WHITE,
align=PP_ALIGN.LEFT, v_anchor=MSO_ANCHOR.MIDDLE)
# Slide number box (bottom right)
# Body
if sub_col2 is None:
tf_body = slide.shapes.add_textbox(Inches(0.5), Inches(1.25), Inches(12.3), Inches(5.9))
tf = tf_body.text_frame
tf.word_wrap = True
tf.margin_left = Pt(4)
tf.margin_right = Pt(4)
tf.margin_top = Pt(4)
_fill_bullets(tf, bullets)
else:
# Two columns
half = 6.1
tf_body1 = slide.shapes.add_textbox(Inches(0.5), Inches(1.25), Inches(half), Inches(5.9))
tf1 = tf_body1.text_frame
tf1.word_wrap = True
_fill_bullets(tf1, bullets)
tf_body2 = slide.shapes.add_textbox(Inches(6.8), Inches(1.25), Inches(half), Inches(5.9))
tf2 = tf_body2.text_frame
tf2.word_wrap = True
_fill_bullets(tf2, sub_col2)
# divider
add_rect(slide, 6.65, 1.3, 0.04, 5.8, MID_TEAL)
def _fill_bullets(tf, bullets):
"""bullets = list of (level, text, bold_flag, color_override)"""
from pptx.oxml.ns import qn
from lxml import etree
first = True
for item in bullets:
if isinstance(item, str):
level, text, bold, col = 0, item, False, DARK_TEXT
elif len(item) == 2:
level, text = item; bold = False; col = DARK_TEXT
elif len(item) == 3:
level, text, bold = item; col = DARK_TEXT
else:
level, text, bold, col = item
if first:
p = tf.paragraphs[0]
first = False
else:
p = tf.add_paragraph()
p.level = level
indent_map = {0: Pt(0), 1: Pt(18), 2: Pt(34)}
p.space_before = Pt(3 if level == 0 else 1)
p.space_after = Pt(1)
run = p.add_run()
run.text = text
size_map = {0: 18, 1: 16, 2: 14}
run.font.size = Pt(size_map.get(level, 16))
run.font.bold = bold
run.font.color.rgb = col
run.font.name = "Calibri"
# bullet symbol
pPr = p._pPr
if pPr is None:
pPr = p._p.get_or_add_pPr()
buChar = etree.SubElement(pPr, qn('a:buChar'))
if level == 0:
buChar.set('char', '▶')
elif level == 1:
buChar.set('char', '•')
else:
buChar.set('char', '–')
buFont = etree.SubElement(pPr, qn('a:buFont'))
buFont.set('typeface', 'Arial')
buSzPct = etree.SubElement(pPr, qn('a:buSzPct'))
buSzPct.set('val', '80000')
buClr = etree.SubElement(pPr, qn('a:buClr'))
srgbClr = etree.SubElement(buClr, qn('a:srgbClr'))
srgbClr.set('val', f'{MID_TEAL.rgb:06X}')
def section_divider(slide, section_name, subtitle=""):
"""Full-bleed section divider slide."""
add_rect(slide, 0, 0, 13.333, 7.5, DARK_TEAL)
add_rect(slide, 0, 3.2, 13.333, 0.1, AMBER)
add_textbox(slide, section_name, 1, 1.8, 11.333, 1.8,
font_size=46, bold=True, color=WHITE,
align=PP_ALIGN.CENTER, v_anchor=MSO_ANCHOR.MIDDLE)
if subtitle:
add_textbox(slide, subtitle, 1, 3.5, 11.333, 1.2,
font_size=22, bold=False, color=AMBER,
align=PP_ALIGN.CENTER, v_anchor=MSO_ANCHOR.MIDDLE)
# ══════════════════════════════════════════════
# SLIDE 1 — TITLE
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_rect(slide, 0, 0, 13.333, 7.5, DARK_TEAL)
add_rect(slide, 0, 5.6, 13.333, 1.9, MID_TEAL)
add_rect(slide, 0, 2.85, 13.333, 0.12, AMBER)
add_textbox(slide, "INHERITED METABOLIC", 0.5, 0.8, 12.333, 1.1,
font_size=44, bold=True, color=WHITE, align=PP_ALIGN.CENTER)
add_textbox(slide, "DISORDERS OF THE LIVER", 0.5, 1.85, 12.333, 1.0,
font_size=44, bold=True, color=AMBER, align=PP_ALIGN.CENTER)
add_textbox(slide, "(Excluding Wilson Disease & Hemochromatosis)", 0.5, 3.1, 12.333, 0.7,
font_size=20, bold=False, color=RGBColor(0xC8,0xE8,0xEC), align=PP_ALIGN.CENTER)
add_textbox(slide, "A Comprehensive Clinical Review", 0.5, 5.8, 12.333, 0.6,
font_size=18, bold=False, color=WHITE, align=PP_ALIGN.CENTER)
add_textbox(slide, "Sources: Sleisenger & Fordtran's GI & Liver Disease | Robbins & Kumar Basic Pathology",
0.5, 6.5, 12.333, 0.6,
font_size=12, bold=False, color=RGBColor(0xAA,0xCC,0xCC), align=PP_ALIGN.CENTER)
# ══════════════════════════════════════════════
# SLIDE 2 — OVERVIEW / TABLE OF CONTENTS
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "Topics Covered", [
(0, "1. Overview & Clinical Approach to Inherited Metabolic Liver Disease", True, DARK_TEXT),
(0, "2. α1-Antitrypsin (α1-AT) Deficiency", False, DARK_TEXT),
(0, "3. Glycogen Storage Diseases (GSD Types I, III, IV)", False, DARK_TEXT),
(0, "4. Hereditary Tyrosinemia Type 1 (HT-1)", False, DARK_TEXT),
(0, "5. Congenital Disorders of Glycosylation (CDG)", False, DARK_TEXT),
(0, "6. Porphyrias & Hepatic Involvement", False, DARK_TEXT),
(0, "7. Other Metabolic Liver Disorders (Galactosemia, Fructosemia, Niemann-Pick, Gaucher)", False, DARK_TEXT),
(0, "8. Diagnostic Approach", False, DARK_TEXT),
(0, "9. Role of Liver Transplantation", False, DARK_TEXT),
(0, "10. Summary Table & Key Takeaways", False, DARK_TEXT),
])
# ══════════════════════════════════════════════
# SLIDE 3 — SECTION: OVERVIEW
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
section_divider(slide, "Overview & Clinical Approach",
"Inherited Metabolic Liver Disease — The Big Picture")
# ══════════════════════════════════════════════
# SLIDE 4 — EPIDEMIOLOGY & BURDEN
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "Why It Matters: Epidemiology & Burden", [
(0, "Definition", True, DARK_TEAL),
(1, "Genetic conditions where enzyme/transporter defects cause accumulation of toxic substrates or absence of essential products", False, DARK_TEXT),
(1, "Result: hepatocyte injury → inflammation → cirrhosis → HCC or liver failure", False, DARK_TEXT),
(0, "Transplant Burden", True, DARK_TEAL),
(1, "13% of all liver transplants in the USA are due to metabolic liver disease", False, DARK_TEXT),
(1, "~22% of pediatric liver transplants (2011–2013) were for metabolic/genetic liver disease", False, DARK_TEXT),
(0, "Onset", True, DARK_TEAL),
(1, "Neonatal/infantile: acute liver failure (tyrosinemia, GSD, urea cycle defects)", False, DARK_TEXT),
(1, "Childhood to adulthood: chronic hepatitis, cirrhosis, HCC (α1-AT, GSD III/IV)", False, DARK_TEXT),
(0, "Key principle: Disorders can mimic infection, intoxication, or other liver diseases — high index of suspicion required", True, RED_ACCENT),
])
# ══════════════════════════════════════════════
# SLIDE 5 — CLINICAL FEATURES (WHEN TO SUSPECT)
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "When to Suspect: Clinical Clues",
bullets=[
(0, "SYMPTOMS (Box 77.1 — Sleisenger & Fordtran's)", True, DARK_TEAL),
(1, "Coma, seizures, developmental delay, regression of milestones", False, DARK_TEXT),
(1, "Growth failure, recurrent vomiting", False, DARK_TEXT),
(1, "Hyperammonemic symptoms, hypoglycemic symptoms", False, DARK_TEXT),
],
sub_col2=[
(0, "SIGNS", True, DARK_TEAL),
(1, "Ascites, jaundice, hepatomegaly, splenomegaly", False, DARK_TEXT),
(1, "Kayser-Fleischer rings (Wilson – excluded here)", False, MID_GREY),
(1, "Rickets, dysmorphic features, cataracts", False, DARK_TEXT),
(0, "HISTORY CLUES", True, DARK_TEAL),
(1, "Consanguinity, multiple miscarriages, early infant deaths", False, DARK_TEXT),
(1, "Food-related symptom onset (galactosemia, fructosemia, UCD)", False, DARK_TEXT),
(1, "Dietary aversions", False, DARK_TEXT),
(0, "Elevated aminotransferases + any of above → immediate metabolic work-up", True, RED_ACCENT),
]
)
# ══════════════════════════════════════════════
# SLIDE 6 — SECTION: α1-AT DEFICIENCY
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
section_divider(slide, "α1-Antitrypsin (α1-AT) Deficiency",
"Most Common Genetic Liver Disease Requiring Liver Transplantation")
# ══════════════════════════════════════════════
# SLIDE 7 — α1-AT: GENETICS & MECHANISM
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "α1-AT Deficiency — Genetics & Pathophysiology", [
(0, "Genetics", True, DARK_TEAL),
(1, "Autosomal recessive; SERPINA1 gene (chromosome 14)", False, DARK_TEXT),
(1, "Most pathogenic allele: Z (Glu342Lys substitution) — PiZZ homozygotes most affected", False, DARK_TEXT),
(1, "2nd most common metabolic liver disease worldwide (after hemochromatosis)", False, DARK_TEXT),
(0, "Mechanism — Gain of Toxic Function (Liver)", True, DARK_TEAL),
(1, "Z-protein misfolds → forms intracellular polymers inside hepatocytes", False, DARK_TEXT),
(1, "Retention of misfolded protein → ER stress → hepatocyte injury → inflammation → fibrosis", False, DARK_TEXT),
(1, "NOT a deficiency disease for the liver — it is a TOXIC GAIN-OF-FUNCTION", False, DARK_TEXT),
(0, "Mechanism — Loss of Function (Lungs)", True, DARK_TEAL),
(1, "Reduced circulating α1-AT → uninhibited neutrophil elastase activity", False, DARK_TEXT),
(1, "Result: progressive pan-acinar emphysema, especially in smokers", False, DARK_TEXT),
(0, "α1-AT is an acute-phase reactant — levels can be NORMAL during inflammation/pregnancy in PiZZ!", True, RED_ACCENT),
])
# ══════════════════════════════════════════════
# SLIDE 8 — α1-AT: CLINICAL FEATURES & HISTOLOGY
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "α1-AT Deficiency — Clinical Features & Histology",
bullets=[
(0, "Liver Presentations (by age)", True, DARK_TEAL),
(1, "Neonatal: cholestasis, bile duct paucity, giant cell hepatitis", False, DARK_TEXT),
(1, "Child/adolescent: chronic hepatitis, hepatomegaly", False, DARK_TEXT),
(1, "Adult: cirrhosis, HCC (especially adult males)", False, DARK_TEXT),
(1, "Severe progressive liver disease more common in adult males", False, DARK_TEXT),
],
sub_col2=[
(0, "Histology — Key Feature", True, DARK_TEAL),
(1, "PAS-positive, diastase-RESISTANT globules in periportal hepatocytes", True, RED_ACCENT),
(1, "Most prominent in zone 1 (periportal) hepatocytes", False, DARK_TEXT),
(1, "Can also be seen in Kupffer cells", False, DARK_TEXT),
(1, "Confirmed with immunohistochemistry using anti-α1-AT Z monoclonal antibody", False, DARK_TEXT),
(0, "Other Features", True, DARK_TEAL),
(1, "Lung: emphysema (pan-acinar) — avoid smoking!", False, DARK_TEXT),
(1, "HCC surveillance: US every 6 months in cirrhotics (AASLD)", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 9 — α1-AT: DIAGNOSIS & TREATMENT
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "α1-AT Deficiency — Diagnosis & Treatment",
bullets=[
(0, "Diagnosis", True, DARK_TEAL),
(1, "Serum α1-AT PHENOTYPE analysis (not just level!) — PiZZ confirms", True, RED_ACCENT),
(1, "PCR for common alleles (Z, S)", False, DARK_TEXT),
(1, "Liver biopsy: PAS+ diastase-resistant globules", False, DARK_TEXT),
(1, "Molecular/sequence analysis for rare variants", False, DARK_TEXT),
(0, "Treatment — Liver Disease", True, DARK_TEAL),
(1, "NO approved disease-specific therapy for liver disease", True, RED_ACCENT),
(1, "Supportive: fat-soluble vitamins, adequate nutrition", False, DARK_TEXT),
(1, "Avoid alcohol, smoking, obesity, second-hand smoke", False, DARK_TEXT),
],
sub_col2=[
(0, "Emerging Therapies", True, DARK_TEAL),
(1, "siRNA: targets Z-variant mRNA, reduces intracellular accumulation", False, DARK_TEXT),
(1, "Autophagy enhancers: carbamazepine, rapamycin (clear misfolded protein)", False, DARK_TEXT),
(1, "CRISPR gene-editing strategies (preclinical)", False, DARK_TEXT),
(1, "Monoclonal antibodies to block Z-protein polymerization", False, DARK_TEXT),
(0, "Lung Disease Only", True, DARK_TEAL),
(1, "IV α1-AT augmentation therapy (FDA-approved for lung)", False, DARK_TEXT),
(1, "Does NOT help liver disease", True, RED_ACCENT),
(0, "Liver Transplantation", True, DARK_TEAL),
(1, "Most common genetic disease requiring LT", False, DARK_TEXT),
(1, "5-year survival: 83–90% (children & adults)", False, DARK_TEXT),
(1, "LT corrects both liver injury AND metabolic defect", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 10 — SECTION: GSDs
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
section_divider(slide, "Glycogen Storage Diseases (GSD)",
"Types I, III, and IV — The Three That Cause Serious Liver Disease")
# ══════════════════════════════════════════════
# SLIDE 11 — GSD: Overview
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "Glycogen Storage Diseases — Overview", [
(0, "More than 12 distinct inborn errors of glycogen metabolism exist", False, DARK_TEXT),
(0, "Only 3 cause clinically serious liver disease: GSD Types I, III, and IV", True, RED_ACCENT),
(0, "Incidence: 1 in 50,000–100,000 (combined types I, III, IV)", False, DARK_TEXT),
(0, "Glycogen Metabolism Essentials", True, DARK_TEAL),
(1, "Glycogen stores glucose in liver & muscle as energy reserve", False, DARK_TEXT),
(1, "Linear backbone: α-1,4 glycosidic bonds", False, DARK_TEXT),
(1, "Branching: 8–10% of glucose in α-1,6 linkage (branches every 8–10 residues)", False, DARK_TEXT),
(1, "Substrates: glucose-6-phosphate, glucose-1-phosphate", False, DARK_TEXT),
(0, "Tissues involved: liver (glucose homeostasis), muscle (energy), PMNs", False, DARK_TEXT),
(0, "Other GSDs may cause hepatomegaly or mild histologic changes but not clinically significant liver disease", False, MID_GREY),
])
# ══════════════════════════════════════════════
# SLIDE 12 — GSD TYPE I (von Gierke)
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "GSD Type I — Von Gierke Disease",
bullets=[
(0, "Enzyme Defect", True, DARK_TEAL),
(1, "Glucose-6-phosphatase (Type Ia) or translocase (Type Ib)", False, DARK_TEXT),
(1, "Gene: G6PC (Type Ia) or SLC37A4 (Type Ib)", False, DARK_TEXT),
(0, "Mechanism", True, DARK_TEAL),
(1, "Cannot release free glucose from liver → profound fasting hypoglycemia", False, DARK_TEXT),
(1, "Glucose-6-P accumulates → glycogen + fat build up in liver", False, DARK_TEXT),
(1, "Type Ib additionally: neutropenia + recurrent infections", False, DARK_TEXT),
(0, "Clinical Features", True, DARK_TEAL),
(1, "Massive hepatomegaly (glycogen + fat accumulation)", False, DARK_TEXT),
(1, "Severe fasting hypoglycemia (present in infancy)", False, DARK_TEXT),
(1, "Lactic acidosis, hyperuricemia, hyperlipidemia", False, DARK_TEXT),
],
sub_col2=[
(0, "Complications", True, DARK_TEAL),
(1, "Hepatic adenomas develop in 2nd–3rd decade → risk of HCC", True, RED_ACCENT),
(1, "Growth retardation, short stature", False, DARK_TEXT),
(1, "Renal enlargement, focal segmental glomerulosclerosis", False, DARK_TEXT),
(0, "Diagnosis", True, DARK_TEAL),
(1, "Fasting hypoglycemia + lactic acidosis + hepatomegaly → gene testing", False, DARK_TEXT),
(1, "Enzyme assay in liver biopsy or fibroblasts", False, DARK_TEXT),
(0, "Treatment", True, DARK_TEAL),
(1, "Frequent feeds; uncooked cornstarch (slow-release glucose)", True, GREEN_ACC),
(1, "Avoid fructose and galactose (converted to glucose-6-P)", False, DARK_TEXT),
(1, "Nocturnal nasogastric glucose infusion in infants", False, DARK_TEXT),
(1, "LT considered for uncontrolled metabolic disease or HCC", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 13 — GSD TYPE III (Cori / Forbes)
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "GSD Type III — Cori / Forbes Disease",
bullets=[
(0, "Enzyme Defect", True, DARK_TEAL),
(1, "Debranching enzyme (amylo-1,6-glucosidase)", False, DARK_TEXT),
(1, "Gene: AGL", False, DARK_TEXT),
(1, "AR inheritance", False, DARK_TEXT),
(0, "Mechanism", True, DARK_TEAL),
(1, "Cannot remove branch-point glucose → abnormal ('limit dextrin') glycogen accumulates", False, DARK_TEXT),
(1, "Glycogenolysis only partially effective", False, DARK_TEXT),
(0, "Clinical Features", True, DARK_TEAL),
(1, "Hepatomegaly (prominent in childhood)", False, DARK_TEXT),
(1, "Fasting hypoglycemia — milder than Type I", False, DARK_TEXT),
(1, "Myopathy (weakness, muscle cramps) — skeletal and cardiac", False, DARK_TEXT),
],
sub_col2=[
(0, "Prognosis", True, DARK_TEAL),
(1, "Liver disease often IMPROVES with age (unlike GSD IV)", True, GREEN_ACC),
(1, "Muscle involvement may persist and worsen", False, DARK_TEXT),
(1, "Rarely develops cirrhosis", False, DARK_TEXT),
(0, "Diagnosis", True, DARK_TEAL),
(1, "Enzyme assay (leucocytes or liver)", False, DARK_TEXT),
(1, "Molecular testing of AGL gene", False, DARK_TEXT),
(0, "Treatment", True, DARK_TEAL),
(1, "High-protein, frequent-feed diet", False, DARK_TEXT),
(1, "Protein intake helps via gluconeogenesis", False, DARK_TEXT),
(1, "Avoid prolonged fasting", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 14 — GSD TYPE IV (Andersen)
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "GSD Type IV — Andersen Disease",
bullets=[
(0, "Enzyme Defect", True, DARK_TEAL),
(1, "Branching enzyme (α-1,4-glucan:α-1,4-glucan 6-glucosyltransferase)", False, DARK_TEXT),
(1, "Gene: GBE1", False, DARK_TEXT),
(0, "Mechanism", True, DARK_TEAL),
(1, "Cannot form normal branch points → AMYLOPECTIN accumulates", False, DARK_TEXT),
(1, "Amylopectin = long, poorly branched glycogen — resembles plant starch", False, DARK_TEXT),
(1, "PAS-positive inclusions in hepatocytes", False, DARK_TEXT),
(0, "Clinical Features", True, DARK_TEAL),
(1, "Macronodular cirrhosis with amylopectin deposits", True, RED_ACCENT),
(1, "May progress to liver failure and rarely adenoma/HCC", False, DARK_TEXT),
(1, "Cardiomyopathy (amylopectin in heart)", False, DARK_TEXT),
],
sub_col2=[
(0, "Prognosis", True, DARK_TEAL),
(1, "Most die within first 3 years if untreated", True, RED_ACCENT),
(1, "High diet (protein, low carb) → improved growth but limited liver benefit", False, DARK_TEXT),
(0, "Treatment", True, DARK_TEAL),
(1, "Liver Transplantation: corrects metabolic error, normal growth in most", True, GREEN_ACC),
(1, "Caveat: Amylopectin may PERSIST in heart (progressive cardiomyopathy) after LT", True, RED_ACCENT),
(1, "Amylopectin also persists in leukocytes post-LT", False, DARK_TEXT),
(0, "Research", True, DARK_TEAL),
(1, "Adenoviral-mediated gene therapy: systemic correction achieved in mouse model", False, DARK_TEXT),
(1, "Human trials awaited", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 15 — SECTION: TYROSINEMIA
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
section_divider(slide, "Hereditary Tyrosinemia Type 1 (HT-1)",
"The Disease That Kills Fast — But Can Be Treated")
# ══════════════════════════════════════════════
# SLIDE 16 — HT-1: Genetics & Mechanism
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "Hereditary Tyrosinemia Type 1 — Genetics & Mechanism", [
(0, "Genetics", True, DARK_TEAL),
(1, "Autosomal recessive; deficiency of fumarylacetoacetate hydrolase (FAH)", False, DARK_TEXT),
(1, "FAH is the LAST enzyme in tyrosine catabolism", False, DARK_TEXT),
(0, "Toxic Metabolites", True, DARK_TEAL),
(1, "Fumarylacetoacetate (FAA) and maleylacetoacetate accumulate upstream", False, DARK_TEXT),
(1, "Converted to SUCCINYLACETONE (SA) and succinylacetoacetate (SAA)", False, DARK_TEXT),
(1, "SA + SAA directly injure hepatocytes and renal tubules", True, RED_ACCENT),
(1, "SA is a potent inhibitor of δ-aminolevulinic acid (ALA) dehydratase → blocks heme synthesis → porphyria-like neurologic crises", True, RED_ACCENT),
(0, "Secondary effects", True, DARK_TEAL),
(1, "Plasma tyrosine and methionine elevated (non-specific)", False, DARK_TEXT),
(1, "AFP markedly elevated (even before HCC develops — not useful for HCC diagnosis)", False, DARK_TEXT),
])
# ══════════════════════════════════════════════
# SLIDE 17 — HT-1: Clinical Features
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "HT-1 — Clinical Presentations",
bullets=[
(0, "ACUTE FORM (onset < 6 months)", True, RED_ACCENT),
(1, "Acute liver failure: coagulopathy, hypoglycemia, jaundice, ascites", False, DARK_TEXT),
(1, "Anorexia, vomiting, irritability", False, DARK_TEXT),
(1, "Elevated aminotransferases, GGTP, bilirubin, AFP", False, DARK_TEXT),
(1, "Urine: SA, SAA, ALA, phosphaturia, glucosuria, aminoaciduria", False, DARK_TEXT),
(1, "77% present before 6 months of age", True, RED_ACCENT),
(1, "1-yr survival (0–2 months): 38% | (2–6 months): 74% | (>6 months): 96%", True, RED_ACCENT),
],
sub_col2=[
(0, "CHRONIC FORM (onset > 1 year)", True, DARK_TEAL),
(1, "Hepatomegaly, milder hepatic dysfunction", False, DARK_TEXT),
(1, "Rickets (phosphaturia → hypophosphatemia)", False, DARK_TEXT),
(1, "Nephromegaly, hypertension, growth retardation", False, DARK_TEXT),
(1, "Fanconi syndrome (proximal RTA)", False, DARK_TEXT),
(0, "Complications", True, DARK_TEAL),
(1, "HCC: high risk even before cirrhosis (large/small cell dysplasia)", True, RED_ACCENT),
(1, "Cardiomyopathy (septal hypertrophy) in ~1/3 — reversible with treatment", False, DARK_TEXT),
(1, "Neurologic crises: porphyria-like, autonomic + motor neuropathy", True, RED_ACCENT),
(1, "Developmental delay, attention deficit disorders", False, DARK_TEXT),
(1, "Renal failure → may need renal transplantation", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 18 — HT-1: Diagnosis & Treatment
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "HT-1 — Diagnosis & Treatment",
bullets=[
(0, "Diagnosis", True, DARK_TEAL),
(1, "Urine succinylacetone (SA) — PATHOGNOMONIC", True, RED_ACCENT),
(1, "Elevated plasma tyrosine, methionine, AFP", False, DARK_TEXT),
(1, "FAH enzyme assay: liver, fibroblasts, or erythrocytes", False, DARK_TEXT),
(1, "Molecular testing: FAH gene mutations", False, DARK_TEXT),
(1, "Newborn screening: SA detectable on dried blood spot (tandem MS)", False, DARK_TEXT),
(0, "Histopathology", True, DARK_TEAL),
(1, "Acute: enlarged pale nodular liver or shrunken brown liver", False, DARK_TEXT),
(1, "Micronodular cirrhosis, steatosis, bile duct proliferation", False, DARK_TEXT),
(1, "Chronic: macronodular cirrhosis, large/small cell dysplasia", False, DARK_TEXT),
],
sub_col2=[
(0, "Treatment — NITISINONE (NTBC)", True, GREEN_ACC),
(1, "Mechanism: inhibits 4-hydroxyphenylpyruvate dioxygenase (4-HPPD) — upstream of FAH", False, DARK_TEXT),
(1, "Prevents formation of toxic SA and SAA", False, DARK_TEXT),
(1, "Dramatically improves survival — standard of care", True, GREEN_ACC),
(1, "Side effects: elevated plasma tyrosine → diet restriction required", False, DARK_TEXT),
(0, "Diet", True, DARK_TEAL),
(1, "Low-tyrosine, low-phenylalanine diet", False, DARK_TEXT),
(1, "Prevents tyrosine crystalline deposits in cornea/skin", False, DARK_TEXT),
(0, "Liver Transplantation", True, DARK_TEAL),
(1, "Curative — if NTBC fails, HCC develops, or end-stage disease", False, DARK_TEXT),
(1, "Corrects metabolic defect and prevents further SA production", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 19 — SECTION: CDG
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
section_divider(slide, "Congenital Disorders of Glycosylation (CDG)",
"Over 130 Disorders — Hepatic Involvement in ~22%")
# ══════════════════════════════════════════════
# SLIDE 20 — CDG: Overview & Liver
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "CDG — Overview & Hepatic Involvement",
bullets=[
(0, "Definition", True, DARK_TEAL),
(1, "Inherited defects in glycan synthesis on glycoproteins — affects all organ systems", False, DARK_TEXT),
(1, ">130 CDG types involving N-linked and O-linked protein glycosylation", False, DARK_TEXT),
(0, "Classification", True, DARK_TEAL),
(1, "Group I: disorders of lipid-linked oligosaccharide assembly (before transfer to protein)", False, DARK_TEXT),
(1, "Group II: disorders of protein-bound oligosaccharide processing", False, DARK_TEXT),
(0, "Liver Involvement", True, DARK_TEAL),
(1, "Present in ~22% of CDG patients", False, DARK_TEXT),
(1, "Usually mild: steatosis + fibrosis on light microscopy", False, DARK_TEXT),
(1, "Electron microscopy: MYELOSOMES — lysosomal vacuoles with concentric electron-dense membranes", True, RED_ACCENT),
(1, "Uncommonly progresses to cirrhosis and liver failure", False, DARK_TEXT),
],
sub_col2=[
(0, "Affected Glycoproteins (clinical relevance)", True, DARK_TEAL),
(1, "Coagulation factors → coagulopathy (both pro- and anti-coagulant)", True, RED_ACCENT),
(1, "Albumin, apolipoproteins, growth hormone, insulin, thyroxine-binding globulin", False, DARK_TEXT),
(0, "Key Screening Test", True, DARK_TEAL),
(1, "Serum TRANSFERRIN isoelectric focusing — detects N-glycosylation defects", True, GREEN_ACC),
(1, "Advanced mass spectrometry for confirmation", False, DARK_TEXT),
(0, "When to Screen for CDG", True, DARK_TEAL),
(1, "Unexplained congenital hepatic fibrosis", False, DARK_TEXT),
(1, "Protein-losing enteropathy", False, DARK_TEXT),
(1, "Pro-coagulant or anticoagulant tendency without clear cause", False, DARK_TEXT),
(1, "Multisystem disease dominated by CNS features", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 21 — CDG TYPES Ia, Ib, Ic
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "CDG — Key Types with Liver Involvement",
bullets=[
(0, "CDG Type Ia — PMM2-CDG (most common CDG)", True, DARK_TEAL),
(1, "Enzyme: phosphomannomutase 2 (PMM2)", False, DARK_TEXT),
(1, "Features: psychomotor retardation, cerebellar hypoplasia, hepatomegaly, coagulopathy, protein-losing enteropathy", False, DARK_TEXT),
(1, "No specific treatment; supportive care", False, DARK_TEXT),
(0, "CDG Type Ib — MPI-CDG (ONLY TREATABLE FORM)", True, GREEN_ACC),
(1, "Enzyme: phosphomannose isomerase (MPI)", False, DARK_TEXT),
(1, "Features: intractable diarrhea, protein-losing enteropathy, congenital hepatic fibrosis, hyperinsulinemic hypoglycemia, cyclic vomiting", False, DARK_TEXT),
(1, "Usually NO neurological features (key differentiator from Type Ia)", True, GREEN_ACC),
(1, "Treatment: ORAL MANNOSE supplementation — effective; liver fibrosis may persist", True, GREEN_ACC),
],
sub_col2=[
(0, "CDG Type Ic — ALG6-CDG", True, DARK_TEAL),
(1, "Transient hepatomegaly without congenital hepatic fibrosis", False, DARK_TEXT),
(1, "Otherwise milder than Type Ia", False, DARK_TEXT),
(0, "CDG Type Ih — ALG8-CDG", True, DARK_TEAL),
(1, "Protein-losing enteropathy with chronic diarrhea", False, DARK_TEXT),
(1, "Hepatic fibrosis, variable hepatic dysfunction", False, DARK_TEXT),
(0, "Group II CDGs", True, DARK_TEAL),
(1, "Marked dysmorphic features, severe developmental delay", False, DARK_TEXT),
(1, "Hepatosplenomegaly, progressive jaundice, epilepsy in some", False, DARK_TEXT),
(1, "Progressive cirrhosis reported with normal hepatic excretory/synthetic function", False, DARK_TEXT),
(0, "LT has been beneficial in select CDG Ib patients with full clinical recovery", False, GREEN_ACC),
]
)
# ══════════════════════════════════════════════
# SLIDE 22 — SECTION: PORPHYRIAS
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
section_divider(slide, "Porphyrias",
"Heme Synthesis Defects — Hepatic Involvement")
# ══════════════════════════════════════════════
# SLIDE 23 — PORPHYRIAS: Overview & Classification
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "Porphyrias — Overview & Classification",
bullets=[
(0, "Definition", True, DARK_TEAL),
(1, "Defects in enzymes of the heme biosynthesis pathway (8 steps, 8 types)", False, DARK_TEXT),
(1, "Each porphyria corresponds to a specific enzyme deficiency", False, DARK_TEXT),
(0, "Classification", True, DARK_TEAL),
(1, "HEPATIC porphyrias: precursors accumulate in liver → liver disease + systemic symptoms", False, DARK_TEXT),
(1, "ERYTHROPOIETIC porphyrias: accumulation in bone marrow → photosensitivity", False, DARK_TEXT),
(0, "ACUTE porphyrias (neurovisceral symptoms)", True, RED_ACCENT),
(1, "Acute Intermittent Porphyria (AIP) — most common acute type", False, DARK_TEXT),
(1, "ALA dehydratase deficiency porphyria (ADD) — rare", False, DARK_TEXT),
(1, "Hereditary coproporphyria (HCP), Variegate porphyria (VP)", False, DARK_TEXT),
],
sub_col2=[
(0, "CUTANEOUS porphyrias", True, DARK_TEAL),
(1, "Porphyria cutanea tarda (PCT) — most common overall", False, DARK_TEXT),
(1, "Congenital erythropoietic porphyria (CEP)", False, DARK_TEXT),
(1, "Erythropoietic protoporphyria (EPP)", False, DARK_TEXT),
(0, "Triggers for Acute Attacks", True, RED_ACCENT),
(1, "Drugs (barbiturates, sulfonamides, estrogens, rifampicin, griseofulvin)", False, DARK_TEXT),
(1, "Fasting / low-carbohydrate diets", False, DARK_TEXT),
(1, "Hormonal changes (luteal phase, pregnancy)", False, DARK_TEXT),
(1, "Infections, stress", False, DARK_TEXT),
(0, "Hepatic risk in porphyrias: elevated HCC risk (particularly in AIP and PCT)", True, RED_ACCENT),
]
)
# ══════════════════════════════════════════════
# SLIDE 24 — AIP & PCT
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "AIP & Porphyria Cutanea Tarda — Key Points",
bullets=[
(0, "Acute Intermittent Porphyria (AIP)", True, DARK_TEAL),
(1, "Enzyme: porphobilinogen deaminase (PBGD) — haploinsufficiency (AD)", False, DARK_TEXT),
(1, "ALA and porphobilinogen (PBG) accumulate", False, DARK_TEXT),
(1, "Triad: abdominal pain + autonomic instability + neuropsychiatric symptoms", True, RED_ACCENT),
(1, "Urine turns red/brown on standing (porphyrins)", False, DARK_TEXT),
(1, "Diagnosis: elevated urinary ALA and PBG during attack", False, DARK_TEXT),
(1, "Treatment: IV glucose (suppress ALA synthase) + IV hemin (givosiran for prevention)", False, DARK_TEXT),
(1, "LT cures the metabolic defect in severe refractory AIP", False, DARK_TEXT),
],
sub_col2=[
(0, "Porphyria Cutanea Tarda (PCT)", True, DARK_TEAL),
(1, "Enzyme: uroporphyrinogen decarboxylase (UROD)", False, DARK_TEXT),
(1, "Most common porphyria overall", False, DARK_TEXT),
(1, "ASSOCIATED WITH: HCV infection, alcohol, HFE mutations, estrogens, HIV", True, RED_ACCENT),
(1, "Uroporphyrin accumulates → excreted in urine (fluorescent pink)", False, DARK_TEXT),
(1, "Skin: blistering photosensitivity on sun-exposed areas, fragile skin, hyperpigmentation, hypertrichosis", False, DARK_TEXT),
(1, "HCC risk elevated in liver disease + PCT", False, DARK_TEXT),
(0, "PCT Treatment", True, GREEN_ACC),
(1, "Phlebotomy (remove iron; iron activates porphyria)", False, DARK_TEXT),
(1, "Hydroxychloroquine (chelates porphyrins; low-dose)", False, DARK_TEXT),
(1, "Treat underlying HCV if present", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 25 — SECTION: OTHER DISORDERS
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
section_divider(slide, "Other Inherited Metabolic Liver Disorders",
"Galactosemia | Fructosemia | Niemann-Pick | Gaucher Disease")
# ══════════════════════════════════════════════
# SLIDE 26 — Galactosemia & Fructosemia
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "Galactosemia & Hereditary Fructose Intolerance",
bullets=[
(0, "GALACTOSEMIA (Classic)", True, DARK_TEAL),
(1, "Enzyme: GALT (galactose-1-phosphate uridylyltransferase) — AR", False, DARK_TEXT),
(1, "Galactose-1-phosphate accumulates → toxic to liver, brain, kidneys, ovaries", False, DARK_TEXT),
(1, "Presents with neonatal jaundice, liver failure, E. coli sepsis", True, RED_ACCENT),
(1, "Feature: cataracts (galactitol deposits in lens)", False, DARK_TEXT),
(1, "Diagnosis: GALT enzyme assay on RBCs; newborn screen (elevated galactose)", False, DARK_TEXT),
(1, "Treatment: eliminate lactose and galactose from diet immediately", True, GREEN_ACC),
(1, "Residual complications despite diet: ovarian failure (in females), developmental delay", False, DARK_TEXT),
],
sub_col2=[
(0, "HEREDITARY FRUCTOSE INTOLERANCE (HFI)", True, DARK_TEAL),
(1, "Enzyme: aldolase B (fructose-1-phosphate aldolase) — AR", False, DARK_TEXT),
(1, "Fructose-1-phosphate accumulates → sequesters inorganic phosphate → ATP depletion → hepatocyte necrosis", False, DARK_TEXT),
(1, "Presents when fructose/sucrose introduced into diet (infant formula, fruits)", False, DARK_TEXT),
(1, "Symptoms: vomiting, hypoglycemia, jaundice, liver failure after fructose ingestion", True, RED_ACCENT),
(1, "Key clue: strong aversion to sweets (instinctive avoidance)", True, RED_ACCENT),
(1, "Diagnosis: molecular testing (ALDOB gene); avoid fructose loading test (dangerous)", False, DARK_TEXT),
(1, "Treatment: eliminate fructose, sucrose, and sorbitol from diet", True, GREEN_ACC),
(1, "If diet maintained: excellent prognosis, liver recovers", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 27 — Niemann-Pick & Gaucher Disease
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "Niemann-Pick Disease & Gaucher Disease",
bullets=[
(0, "NIEMANN-PICK DISEASE", True, DARK_TEAL),
(1, "Type A & B: sphingomyelinase deficiency → sphingomyelin accumulates in lysosomes", False, DARK_TEXT),
(1, "Type C: NPC1/NPC2 protein defect → impaired cholesterol trafficking", False, DARK_TEXT),
(1, "Liver: hepatomegaly, 'foam cells' (lipid-laden macrophages/Kupffer cells) → fibrosis", False, DARK_TEXT),
(1, "Type A: severe neurodegeneration, death by age 3", False, DARK_TEXT),
(1, "Type B: hepatosplenomegaly, lung disease, NO neurological involvement → longer survival", False, DARK_TEXT),
(1, "Type C: progressive neurological disease + hepatosplenomegaly", False, DARK_TEXT),
(1, "Type B Treatment: IV enzyme replacement therapy (ERT) with olipudase alfa", True, GREEN_ACC),
(1, "Type C Treatment: miglustat (substrate reduction therapy)", False, DARK_TEXT),
],
sub_col2=[
(0, "GAUCHER DISEASE (Type 1 — Most Common)", True, DARK_TEAL),
(1, "Enzyme: β-glucocerebrosidase (glucosylceramidase) — AR; GBA gene", False, DARK_TEXT),
(1, "Glucocerebroside accumulates in macrophages (Gaucher cells — 'crumpled paper' cytoplasm)", False, DARK_TEXT),
(1, "Liver: hepatomegaly, Gaucher cells in sinusoids → fibrosis, portal hypertension", False, DARK_TEXT),
(1, "Splenomegaly (massive) + bone marrow infiltration → cytopenias", False, DARK_TEXT),
(1, "Type 1: NO neurological disease — most common, manageable", True, GREEN_ACC),
(1, "Type 2 & 3: neurological involvement (more severe)", False, DARK_TEXT),
(0, "Gaucher Treatment", True, GREEN_ACC),
(1, "ERT: imiglucerase / velaglucerase alfa / taliglucerase alfa (IV infusion)", True, GREEN_ACC),
(1, "SRT: miglustat or eliglustat (oral; substrate reduction)", False, DARK_TEXT),
(1, "ERT highly effective for liver/spleen/bone; does not cross BBB", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 28 — SECTION: DIAGNOSTIC APPROACH
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
section_divider(slide, "Diagnostic Approach",
"A Systematic Work-Up for Inherited Metabolic Liver Disease")
# ══════════════════════════════════════════════
# SLIDE 29 — DIAGNOSTIC APPROACH (full)
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_bullet_slide(slide, "Diagnostic Work-Up — Step by Step",
bullets=[
(0, "STEP 1 — History", True, DARK_TEAL),
(1, "Family history: consanguinity, unexplained infant deaths, miscarriages", False, DARK_TEXT),
(1, "Symptom onset related to food introduction (galactosemia, HFI, UCD)", False, DARK_TEXT),
(1, "Dietary aversions (instinctive avoidance of sweets in HFI)", False, DARK_TEXT),
(0, "STEP 2 — Initial Screening Labs", True, DARK_TEAL),
(1, "LFTs, coagulation, glucose, ammonia, lactate, uric acid", False, DARK_TEXT),
(1, "Plasma amino acids, urine organic acids, acylcarnitine profile", False, DARK_TEXT),
(1, "Serum iron studies (if hemochromatosis considered)", False, DARK_TEXT),
(1, "α1-AT phenotype, ceruloplasmin + urinary copper", False, DARK_TEXT),
(0, "KEY RULE: Obtain samples DURING the acute episode — many values normalize between attacks", True, RED_ACCENT),
],
sub_col2=[
(0, "STEP 3 — Specific Tests", True, DARK_TEAL),
(1, "Urine succinylacetone → tyrosinemia type 1", False, DARK_TEXT),
(1, "Serum transferrin IEF → CDG", False, DARK_TEXT),
(1, "Urine porphyrins / ALA / PBG → porphyria", False, DARK_TEXT),
(1, "GALT RBC enzyme assay → galactosemia", False, DARK_TEXT),
(1, "β-glucocerebrosidase assay → Gaucher", False, DARK_TEXT),
(1, "GBA / FAH / GBE1 / AGL / G6PC molecular testing", False, DARK_TEXT),
(0, "STEP 4 — Liver Biopsy", True, DARK_TEAL),
(1, "Standard histology + FROZEN specimen (biochemical assay)", True, RED_ACCENT),
(1, "Electron microscopy: organelle changes (myelosomes in CDG; mitochondrial changes)", False, DARK_TEXT),
(1, "PAS staining: glycogen (GSD), PAS+ globules (α1-AT)", False, DARK_TEXT),
(0, "STEP 5 — Molecular Genetic Testing", True, DARK_TEAL),
(1, "Provides genotypic confirmation; essential for family counseling", False, DARK_TEXT),
(1, "NGS panels now available for comprehensive metabolic liver disease", False, DARK_TEXT),
]
)
# ══════════════════════════════════════════════
# SLIDE 30 — SUMMARY TABLE & KEY TAKEAWAYS
# ══════════════════════════════════════════════
slide = prs.slides.add_slide(blank_layout)
add_rect(slide, 0, 0, 13.333, 7.5, LIGHT_TEAL)
add_rect(slide, 0, 0, 13.333, 1.1, DARK_TEAL)
add_rect(slide, 0, 1.1, 13.333, 0.06, AMBER)
add_textbox(slide, "Summary — Key Takeaways", 0.35, 0.1, 12.5, 0.95,
font_size=30, bold=True, color=WHITE,
align=PP_ALIGN.LEFT, v_anchor=MSO_ANCHOR.MIDDLE)
# Table data
headers = ["Disease", "Defect", "Key Feature", "Hallmark Dx Test", "Treatment"]
rows = [
["α1-AT Def.", "SERPINA1 / Z-protein misfolding", "PAS+ periportal globules; cirrhosis/HCC", "Phenotype (PiZZ); liver biopsy", "Supportive; LT"],
["GSD Type I", "G6Pase (G6PC)", "Hypoglycemia + lactic acidosis; adenomas", "Enzyme assay; G6PC gene", "Cornstarch diet"],
["GSD Type III", "Debrancher (AGL)", "Hepatomegaly + myopathy; improves with age", "AGL enzyme / gene", "High protein diet"],
["GSD Type IV", "Brancher (GBE1)", "Amylopectin deposits; cirrhosis by age 3", "Liver biopsy (PAS+); GBE1 gene", "LT (cardiac risk)"],
["Tyrosinemia 1", "FAH", "ALF / HCC; porphyria-like crises", "Urine succinylacetone (patho)", "Nitisinone + low-Tyr diet; LT"],
["CDG Type Ib", "Phosphomannose isomerase", "Hepatic fibrosis; protein-losing enteropathy", "Transferrin IEF", "Oral mannose"],
["PCT", "UROD", "Blistering photosensitivity; HCV-related", "Urine/plasma porphyrins", "Phlebotomy / hydroxychloroquine"],
["Galactosemia", "GALT", "Neonatal ALF; cataracts; E. coli sepsis", "RBC GALT assay; newborn screen", "Lactose-free diet"],
["HFI", "Aldolase B", "Symptoms after fructose; sweet aversion", "ALDOB gene testing", "Fructose-free diet"],
["Gaucher (T1)", "β-glucocerebrosidase", "Hepatosplenomegaly; Gaucher cells", "Leukocyte enzyme assay; GBA gene", "ERT (imiglucerase)"],
]
col_widths = [1.5, 2.1, 3.0, 2.4, 2.1]
col_starts = [0.25]
for w in col_widths[:-1]:
col_starts.append(col_starts[-1] + w)
row_h = 0.52
table_top = 1.22
# Header row
for ci, (hdr, cw, cx) in enumerate(zip(headers, col_widths, col_starts)):
add_rect(slide, cx, table_top, cw - 0.05, row_h, MID_TEAL)
add_textbox(slide, hdr, cx + 0.05, table_top + 0.05, cw - 0.1, row_h - 0.1,
font_size=11, bold=True, color=WHITE, align=PP_ALIGN.CENTER,
v_anchor=MSO_ANCHOR.MIDDLE)
for ri, row in enumerate(rows):
y = table_top + row_h * (ri + 1)
bg = RGBColor(0xD4, 0xEE, 0xF1) if ri % 2 == 0 else WHITE
for ci, (cell, cw, cx) in enumerate(zip(row, col_widths, col_starts)):
add_rect(slide, cx, y, cw - 0.05, row_h, bg)
add_textbox(slide, cell, cx + 0.04, y + 0.02, cw - 0.1, row_h - 0.04,
font_size=9.5, bold=False, color=DARK_TEXT,
align=PP_ALIGN.LEFT, v_anchor=MSO_ANCHOR.MIDDLE)
# ─── Save ───
output_path = "/tmp/workspace/metabolic-liver-pptx/Inherited_Metabolic_Liver_Disorders.pptx"
prs.save(output_path)
print(f"Saved: {output_path}")
print(f"Total slides: {len(prs.slides)}")
cd /tmp/workspace/metabolic-liver-pptx && python create_pptx.py 2>&1
~/metabolic-liver-pptx/create_pptx.py
Successfully replaced 1 instance(s) of the string in '/tmp/workspace/metabolic-liver-pptx/create_pptx.py'
cd /tmp/workspace/metabolic-liver-pptx && python create_pptx.py 2>&1
Inherited Metabolic Liver Disorders
Presentation · PPTX
| # | Slide |
|---|---|
| 1 | Title slide |
| 2 | Table of Contents |
| 3 | Section divider — Overview |
| 4 | Epidemiology & Burden |
| 5 | Clinical Clues — When to Suspect |
| 6 | Section divider — α1-AT Deficiency |
| 7 | α1-AT: Genetics & Pathophysiology |
| 8 | α1-AT: Clinical Features & Histology (PAS+ globules) |
| 9 | α1-AT: Diagnosis & Treatment (emerging siRNA/CRISPR) |
| 10 | Section divider — Glycogen Storage Diseases |
| 11 | GSD Overview |
| 12 | GSD Type I — Von Gierke (cornstarch diet) |
| 13 | GSD Type III — Cori/Forbes Disease |
| 14 | GSD Type IV — Andersen (amylopectin, LT caveat) |
| 15 | Section divider — Tyrosinemia Type 1 |
| 16 | HT-1: Genetics & Succinylacetone mechanism |
| 17 | HT-1: Acute vs Chronic presentations |
| 18 | HT-1: Nitisinone (NTBC) treatment |
| 19 | Section divider — CDG |
| 20 | CDG: Overview & Hepatic Involvement |
| 21 | CDG Types Ia, Ib (only treatable form - oral mannose), Ic |
| 22 | Section divider — Porphyrias |
| 23 | Porphyria Classification & Triggers |
| 24 | AIP & PCT (phlebotomy / hydroxychloroquine) |
| 25 | Section divider — Other Disorders |
| 26 | Galactosemia & Hereditary Fructose Intolerance |
| 27 | Niemann-Pick & Gaucher Disease (ERT) |
| 28 | Section divider — Diagnostic Approach |
| 29 | Step-by-step diagnostic work-up |
| 30 | Master Summary Table (all 10 disorders) |