Lesch-Nyhan syndrome is caused by deficiency of which enzyme?
Correct Answer: Hypoxanthine-guanine Phosphoribosyl transferase (HGPRT)
Description: (D) Hypoxanthine-guanine Phosphoribosyl transferase (HGPRT)[?]LESCH-NYHAN SYNDROMEoMnemonic:-Lips and fingers are bitten-Excessive uric acid production-Self mutilation-Choreoathetosis-HGPRT deficiency-NYHAN sounds like man-Affects boys-X linked recessive[?]Lesch-Nyhan syndrome characterized by:oHyperuricaemia, excessive UA synthesis, neurological problems,-Spasticity, mental retardation and self-mutilation very severe or complete deficiency of HGPRTase.-X-linked males affected.-Defect also leads to excretion of elevated levels of Hypoxanthine and xanthine.-More than 200 mutations reported - these mutations to the loss of enz protein, loss of enzyme activity, km mutants, Enzyme with short half life.-Prenatal diagnosis:-1st trimester - chorionic biopsy-CORONATE-II trimester - HGPRT assays or cultured fibroblasts.[?]Lesch Nyhan SyndromeoIntroduction-Hypoxanthine Guanine Phosphoribosyltransferase (HGPRT) deficiency-X-linked genetic conditionoClinical Features-Neurological Symptoms: Severe neurological disease, characterized by self-mutilating behaviors such as lip and finger biting and/or head banging.-GoutoInvestigation: Serum uric acid level up to 20 times |, the uric acid in the | urine than in normal individuals.[?]Lesch-Nyhan Syndrome (LNS) Also known as Nyhan's syndrome, Kelly Seegmiller Syndrome and Juvenile GoutoIt is a hereditary Disorder of purine metabolism, characterized by mental retardation, self-mutation of the fingers and lips by biting, impaired renal function, and abnormal physical development.oIt is a recessive disease that is linked to the X chromosome.oIt is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT)
Category:
Biochemistry
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