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?
Correct Answer: HGP
Description: 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
Category:
Pediatrics
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