Module 10.2: Metabolic Disorders

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Test 1 (10.2) — Metabolic Disorders

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10.2 Metabolic Disorders — Test 1

Q1. The neurologic disturbances in Niemann-Pick disease are associated with accumulation of which lipid in central nervous tissue?✓ Sphingomyelin

Q2. I-cell disease results from absence of which enzyme, preventing phosphorylation of mannose residues on lysosomal enzymes?✓ UDP-GlcNAc phosphotransferase

Q3. Which enzyme is irreversibly inhibited in alcoholic scurvy?✓ Prolyl hydroxylase

Q4. Which enzyme is absent in a person suffering from alkaptonuria?✓ Homogentisic acid oxidase

Q5. The biochemical basis for one form of hemolytic anemia is:✓ Absence of glucose-6-phosphate dehydrogenase

Q6. A patient with homocystinuria should be supplemented with all of the following vitamins EXCEPT:✓ Vitamin C

Q7. Maple syrup urine disease is caused by blockage of oxidative decarboxylation of α-keto acids. The missing enzyme is:✓ Branched-chain α-keto acid dehydrogenase

Q8. Maple syrup urine disease is a genetic defect in the metabolism of:✓ Branched-chain amino acids

Q9. Phenylketonuria and alkaptonuria are metabolic disorders associated with:✓ Phenylalanine and tyrosine metabolism

Q10. Elevated phenylalanine is a clinical biochemical marker for:✓ Phenylketonuria

Q11. Deficiency of which enzyme causes albinism?✓ Tyrosinase

Q12. Which non-essential amino acid becomes essential for a person with phenylketonuria?✓ Tyrosine

Q13. Glucose-6-phosphatase is deficient in which glycogen storage disease?✓ Von Gierke's disease

Q14. Von Gierke's disease of liver and kidney is associated with deficiency of:✓ Glucose-6-phosphatase

Q15. Which one of the following is NOT an enzyme involved in a lysosomal storage disease?✓ α-2,6-sialyltransferase

Q16. Diabetes mellitus is fundamentally a disorder of:✓ Insulin production or action, disturbing glucose homeostasis

Q17. Familial hypercholesterolemia, a major risk factor for atherosclerosis, is most often caused by a defect in the:✓ LDL receptor