A 1-year-old child presented with involuntary movements which were choreoathetoid in nature, spasticity, dystonias and intellectual disability. The speech of the child was dysahric and mother also gave history of compulsive biting. Some inherited disorder was suspected. The child was normal at bih. Lab findings revealed increased uric acid levels. The enzyme deficient in the above condition catalyses which of the following reactions.
Correct Answer: Guanine to GMP
Description: This is a case of Lesch-nyhan syndrome due to the deficiency of enzyme HGPase.
Category:
Unknown
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now