Article

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in <i>Drosophila</i>

2023-06-23

Abstract excerpt

Adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT) are two structurally related enzymes involved in purine recycling in humans. Inherited mutations that suppress HGPRT activity are associated with Lesch-Nyhan disease (LND), a rare X-linked metabolic and neurological disorder in children, characterized by hyperuricemia, dystonia and compulsive self-injury. To date, n...

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Literature Corpus work: 026bfcfe-02c7-528e-84e3-2523333e27d8
DOI: 10.1101/2023.06.23.546306

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