Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series

Background: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the <i>HPRT1</i> gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes...

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Main Authors: Hung-Hsiang Fang, Chung-Lin Lee, Hui-Ju Chen, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Format: Article
Language:English
Published: MDPI AG 2024-12-01
Series:Diagnostics
Subjects:
Lesch–Nyhan syndrome
<i>HPRT1</i> gene
hyperuricemia
developmental delay
hypotonia
self-mutilation
Online Access:https://www.mdpi.com/2075-4418/14/24/2809
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