Lesch-Nyhan syndrome is caused by deficiency of which enzyme?
(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)
Orotate Phosphoribosyl transferase
Uracil Phosphoribosyl transferase
Quinolinate Phosphoribosyl transferase
Hypoxanthine-guanine Phosphoribosyl transferase (HGPRT)
Molecular Genetics