Lesch Nyhan syndrome is due to deficiency of:
Correct Answer: HGP deficiency
Description: Lesch-Nyhan Syndrome is an X-Linked Recessive inherited disorder of purine metabolism resulting from a viually complete deficiency or absence of Hypoxanthine-Guanine Phosphoribosyl Transferase (HGP). This results in a defect within the purine salvage system causing enhanced levels of purine synthesis and enhanced degradation of purines into uric acid. Xanthine oxidase deficiency leads to Xanthinuria. Adenosine Deaminase (ADA) deficiency leads to Severe Combined Immunodeficiency (SCID) Lesch Nyhan Syndrome: Deficiency/Absence of Hypoxanthine-Guanine Phosphoribosyl Transferase (HGP) - Failure of purine salvage pathway - Increased Accumulation of purine Nucleotides and Increased degradation of purine Nucleotides into uric acid (Increased Serum Uric acid Levels) Hyperuricemic features: Hyperuricemic features, Hyperuricosuria, Urate Nephropathy, Urinary tract urate stones. Neurobehavioural Features (incompletely understood): Mental retardation, Self-mutilation, Spasticit/Chroeathetosis/Dystonia, Convulsion Disorder of Purine Metabolism (Lesch-Nyhan Syndrome) : Purines(Guanine, Adenine, Hypoxanthines) that result from normal turnover of cellular nucleic acids or the small amounts obtained from diet can either be degraded to uric acid or salvaged and rescued by the body the &;salvage pathway&; for purines. Purine Nucleotides: Purine Degradation pathway: Purines are degraded to &;Uric acid&; Purine Salvage Pathway: Purines are conveed to Nucleoside Triphosphates and used by the body as a source of energy. The &;salvage pathway&; for purines require two enzymes: Adenine Phosphoribose-Transferase (AP) Hypoxanthine Guanine Phosphoribosyl-Transferase (HGP) Lesch-Nyhan syndrome is an inherited disorder of purine metabolism resulting from the deficiency or absence of HGP. This results in a defect within the purinesalvage system causing enhanced levels of purine synthesis and enhanced degradation of purines into uric acid. Because of a defect in the purine salvage pathway, purine nucleotides are diveed to the degradation pathway resulting in excessive production of uric acid. Ref: Harper
Category:
Biochemistry
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