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 Paediatrics 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.
- 30 live questions in Inborn Errors of Amino Acid Metabolism.
- 2 of 30 questions carry a verified exam year: 2018, 2019.
- Paediatrics is worth about 10 of 300 questions on the exam. See every subject’s weightage.
- Question set last updated 6 Sept 2026.
Q1.Mental retardation is seen in?
- APhenylketonuria✓ Correct answer
- BAlkaptonuria
- CAlbinism
- DVon Gierke disease
Q2.False about Hartnup's disease
- ADefect in neutral aminoacid transport
- BMental retardation is the common presentation✓ Correct answer
- CMost children are asymptomatic
- DPhotosensitivity
Q3.Sweaty feet odor is seen in
- AMaple syrup urine disease
- BGauchers disease
- CIsovaleric acidemia✓ Correct answer
- DPhenylketonuria
Q4.Which of the following disorder of mother leads to microcephaly in baby –a) SLE b) Hepatitis A c) Phenylketonuria d) Rubella
- Aab
- Bcd✓ Correct answer
- Cbd
- Dac
Q5.Which of the following inborn errors of metabolism is associated with mental retardation –a) Alkaptonuria b) Homocystinuria c) Pentosuria d) Galactosemia
- Ac
- Bd
- Cbd✓ Correct answer
- Dac
Q6.A normal born child presents with mental retardation, blond hair and convulsions at 1 year of age. Most probable diagnosis is?
- AAlbuminuria
- BPhenylketonuria✓ Correct answer
- CGaucher s disease
- DTyrosinemia
Q7.Ochronosis is found in -
- AAlkaptonuria✓ Correct answer
- BTyrosinemia
- CPhenylketonuria
- DHomocystinuria
Q8.Large doses of pyridoxine are of value in some cases of –
- APhenylketonuria
- BHomocystinuria✓ Correct answer
- CNonketotic hyperglycemia
- DKetotic hyperglycemia
Q9.Which of the following is false about alkaptonuria?
- AGenitourinary system not involved✓ Correct answer
- BHomogentisic acid oxidase deficiency
- CBlack urine
- DCalcification in vertebral bodies
Q10.Cabbage like odour is found from body fluids in which of the following metabolic disorders?
- APhenylketonuria
- BTyrosinemia✓ Correct answer
- CMaple syrup urine disease
- DIsovaleric acidemia
Answer key
Q1: A. Phenylketonuria; Q2: B. Mental retardation is the common presentation; Q3: C. Isovaleric acidemia; Q4: B. cd; Q5: C. bd; Q6: B. Phenylketonuria; Q7: A. Alkaptonuria; Q8: B. Homocystinuria; Q9: A. Genitourinary system not involved; Q10: B. Tyrosinemia.
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- Milestones of Development
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