Article

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: Case Series and Review of the Literature

2024-11-13

Abstract excerpt

<h4>Background: </h4> Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study presents a case series of three Taiwanese patients diagnosed at a single medical center. Methods This case series...

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Literature Corpus work: 5fe9bdc9-2946-54d6-9008-90a3d5f77ff3
DOI: 10.20944/preprints202411.0935.v1

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