Long answer question (15marks) 1. Write a detail note on urea cycle with reaction? Mention its major metablic disorders . 2. Explain the transamination reaction ? Involved in the catabolism of amino acids. 3. What are the bile pigments. Name the diseases aassociated with their metablism. 4. What are transaminase. Write the fiagnostic importance of transaminases. 5. What are porphyrin. Explain the type and clinical importance of porphyria. Short answer question ( 5 marks) 1. Explain the transamination reaction involved in thr catabolism of amino avids. 2. Explain phenoketoneumia and alkaptoneumia 3. What is porphyria? 4. What is jaundice? Explain the different types of jaundice? 5. What is normal blood urea level? Name two condition in which blood urea level is elevated .
Quick Index
Long Answer Questions (15 Marks)
| # | Topic | Key Content |
|---|---|---|
| 1 | Urea Cycle | All 5 steps with enzymes/reactions, energetics, nitrogen sources, regulation, link to TCA cycle, 5 major metabolic disorders (OTC deficiency, CPS I, citrullinemia, argininosuccinic aciduria, argininemia) |
| 2 | Transamination | General reaction, PLP coenzyme, ping-pong mechanism, AST/ALT reactions, role in NH₃ disposal and carbon skeleton metabolism |
| 3 | Bile Pigments | Full 5-phase metabolism, normal bilirubin values, all 3 types of jaundice + 5 inherited disorders (Gilbert, Crigler-Najjar I&II, Dubin-Johnson, Rotor) |
| 4 | Transaminases | AST vs ALT, De Ritis ratio, diagnostic significance in AMI, hepatitis, alcoholic liver disease, muscle disease |
| 5 | Porphyrins/Porphyria | Heme biosynthesis, 8 types of porphyria (acute vs cutaneous), clinical features, diagnosis, treatment |
Short Answer Questions (5 Marks)
| # | Topic |
|---|---|
| 1 | Transamination — focused summary |
| 2 | PKU (enzyme, features, treatment) + Alkaptonuria (ochronosis, homogentisate) |
| 3 | Porphyria — concise definition and key types |
| 4 | Jaundice — all 4 types with comparison table |
| 5 | Normal BUN (8–20 mg/dL); elevated in renal failure and high protein catabolism/GI bleeding |