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hypoxanthine-guanine phosphoribosyltransferase

enzyme

Quick Summary

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme crucial for purine metabolism, particularly active in brain cells. A deficiency in HGPRT causes Lesch-Nyhan syndrome, a hereditary metabolic disorder. This condition affects the central nervous system, leading to symptoms like incoordination, intellectual disability, aggressive behavior, and compulsive self-biting. The syndrome is inherited through a recessive sex-linked gene, primarily affecting males, and can be detected before birth in families with a known carrier.1

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