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
Case of Lesch Nyhan Syndrome. Enzyme deficiency is HGPRtase.
X-linked Recessive DisorderQ
••Complete deficiency of HGPRTase
••Purines degraded to uric acid
••Uric acid level increases