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Article

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Orphanet journal of rare diseases - 9 Oct 2025

Zhang Kaichuang, Lu Deyun, Liang Lili, Yang Yi, Wang Ruifang, Sun Yuning, Gong Zhuwen, Zhi Haijuan, Qiu Wenjuan, Han Lianshu

Abstract excerpt

BACKGROUND: Argininosuccinate lyase deficiency (ASLD) is a rare autosomal recessive urea cycle disorder (UCD) resulting from mutations in the ASL gene. Previous studies of ASLD in patients from China have predominantly been limited to individual case reports, lacking comprehensive cohort study. This study aimed to systematically evaluate the clinical features, biochemical abnormalities, and genetic mutations of...

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Identifiers

PMID: 41068918
DOI: 10.1186/s13023-025-04026-2
PMCID: PMC12512550

Genes

ASL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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