Inborn Errors of Amino Acid Metabolism
- Previous year questions on Inborn Errors of Amino Acid Metabolism for NEET PG (National Eligibility cum Entrance Test - Postgraduate), from the Biochemistry section of the exam.
- Most questions here come from previous-year papers of Indian postgraduate medical entrance and licensing exams; where a paper and year are recorded the question carries them. The image-based questions are original vignettes written around an openly licensed figure, and were never asked in any exam.
- 21 live questions in Inborn Errors of Amino Acid Metabolism.
- 8 of 21 questions carry a verified exam year: 2018, 2020.
- Biochemistry is worth about 16 of 300 questions on the exam. See every subject’s weightage.
- Question set last updated 6 Sept 2026.
Q1.True regarding PKU is all except:-
- ADue to deficiency of phenyl alanine hydroxylase
- BNeurological symptoms are due to excess phenyl alanine
- CBlood phenyl alanine level >20 mg/dl causes severe disease
- DMethod of choice for screening is urinary phenyl alanine by Guthrie;s test✓ Correct answer
Q2.Cabbage odour urine is found in
- ALeucine catabolism defect
- BValine catabolism defect
- CTyrosinemia type 1✓ Correct answer
Q3.Enzyme deficient in alkaptonuria -
- APhenylalanine hydroxylase
- BHomogentisate oxidase✓ Correct answer
- CTyrosinase
Q4.In Cystinuria, all of the following amino acids are excreted in urine, except:-
- ACystine
- BOrnithine
- CLeucine✓ Correct answer
- DArginine
Q5.Rotting fish urine odour is seen in?
- AHawkinsuria
- BPhenylketonuria
- CMSUD
- DTrimethylaminuria✓ Correct answer
Q6.Tyrosinosis is caused due to deficiency of which enzyme?
- AFumaryl acetoacetate hydrolase✓ Correct answer
- Bp-hydroxy phenyl pyruvate dehydrogenase
- CTyrosine transaminase
- DTyrosine ligase
Q7.A patient complains of knee pain. Routine investigations are unremarkable and still the patient is unsatisfied. Urine turns black on standing. What is the enzyme involved?
- AHomogentisate Oxidase✓ Correct answer
- BXanthine oxidase
- CPhenylalanine hydroxylase
- DDihydroorotate Dehydrogenase
Q8.Arthritis occur in
- AAlkaptonuria✓ Correct answer
- BCystinosis
- CMaple syrup diseases
- DHomocystinuria
Q9.Pegvaliase was approved by FDA in 2018 for
- APhenylketonuria✓ Correct answer
- BPancreatic tumours
- CCrohn's disease
- DGlycogen storage disorders
Q10.Which of the following clinical laboratory observations is suggestive of Hartnup disease?
- ABurnt sugar smell in urine
- BHigh plasma phenylalanine levels
- CExtremely high levels of citrulline in urine
- DHigh fecal levels of tryptophan and indole derivatives✓ Correct answer
Answer key
Q1: D. Method of choice for screening is urinary phenyl alanine by Guthrie;s test; Q2: C. Tyrosinemia type 1; Q3: B. Homogentisate oxidase; Q4: C. Leucine; Q5: D. Trimethylaminuria; Q6: A. Fumaryl acetoacetate hydrolase; Q7: A. Homogentisate Oxidase; Q8: A. Alkaptonuria; Q9: A. Phenylketonuria; Q10: D. High fecal levels of tryptophan and indole derivatives.
Other topics in Biochemistry
- Carbohydrate Chemistry, Amino Sugars and Glycosaminoglycans
- Glycolysis, Gluconeogenesis and Their Regulation
- Glycogen Metabolism and Storage Diseases
- HMP Shunt with Fructose and Galactose Metabolism
- Bioenergetics and the ETC
- Krebs Cycle
- Amino Acids: Structure and Classification
- Amino Acid Metabolism and Nitrogen Handling
- Levels of Protein Structure and Function
- Urea Cycle and Hyperammonaemia
- Lipids: Classification and Chemistry
- Beta-Oxidation and Ketone Body Formation
- Fatty Acid Synthesis and Eicosanoids
- Acylglycerol and Sphingolipid Metabolism
- Cholesterol Metabolism and Lipoprotein Transport
- Haem Synthesis, Porphyrias and Bile Pigments
- Enzymes: Mechanism of Action and Clinical Uses
- Enzyme Kinetics, Inhibition and Regulation
- Fat-Soluble Vitamins: A, D, E and K
- B-Complex Vitamins in Energy Metabolism
- Folate, Vitamin B12 and Other Vitamins
- Minerals and Antioxidant Systems
- Nucleotide Metabolism and Its Disorders
- DNA Packaging, Replication and Repair
- Transcription and RNA Processing
- Translation and Post-Translational Modification
- Control of Gene Expression
- Recombinant DNA and Genomic Techniques