2016 Recalled questions with answers

A child presents with hyperuricemia and delayed developmental milestones.He also has
the habit of biting fingers and nails.What is the most probable enzyme deficiency?

a) HGPRtase deficiency
b) Phenyl Alanine Hydroxylase
c) Adenine Deaminase
d) Hexosaminidase A

Expln:

Case of Lesch Nyhan Syndrome. Enzyme deficiency is HGPRtase.
Lesch–Nyhan SyndromeQ
X-linked Recessive DisorderQ
Biochemical Defect
••Complete deficiency of HGPRTase
••Purine accumulates
••Purines degraded to uric acid
••Uric acid level increases
Clinical Features