Full 2L QBank
Pediatrics Disorders of Amino acid Metabolism 8d0c7c38

A child who had derangement of milestones and was hyperactive later on developed self mutilating behavior and hair pulling behavior. The child died a few years later. Which of the following enzyme is most likely deficient in the child?

A
Phenylalanine hydroxylase
B
HGP
C
Adenosine deaminase
D
Hexosaminidase A
High-Yield Explanation
Delayed development, hyperactivity and self-mutilating behavior in a child who died later is suggestive of Lesch- Nyhan disease due to HGP deficiency. Phenylalanine hydroxylase deficiency- intellectual disability, hypopigmentation, musty body odour Adenosine deaminase deficiency- early vasculopathy, stroke, immunodeficiency Hexosaminidase A deficiency- Tay sachs disease: macular cherry red spots

Related Pediatrics MCQs

Practice 2,00,000+ NEET PG Questions Free

Timed mock tests, mistake queue analytics, audio lectures & zero attempt limits on i❤️Exams.

Start Free Mock Test Now