Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China
Our study represents the largest cohort of ASLD patients from China reported to date. Despite active interventions, including liver transplantation, the prognosis remains poor, with a high prevalence of developmental delays. The identification of 14 novel pathogenic variants significantly expands the known mutation spectrum of the ASL gene in this population.
Authors
- Lili Liang (ORCID: https://orcid.org/0000-0002-7610-9825)
- Kaichuang Zhang
- Deyun Lu (ORCID: https://orcid.org/0000-0001-7815-6337)
- Wenjuan Qiu (ORCID: https://orcid.org/0000-0002-8145-181X)
- Yi Yang (ORCID: https://orcid.org/0000-0003-4563-371X)
- Lianshu Han (ORCID: https://orcid.org/0000-0003-4209-5119)
- Ruifang Wang (ORCID: https://orcid.org/0000-0002-3849-9914)
- Yuning Sun (ORCID: https://orcid.org/0009-0009-3070-1653)
- Huang Zhi (ORCID: https://orcid.org/0009-0006-1902-1495)
- Zhuwen Gong
Institutions
- XinHua Hospital (CN)
- Shanghai Children's Medical Center (CN)
- National Center for Women and Children’s Health, China CDC (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-10-09
- DOI
- https://doi.org/10.1186/s13023-025-04026-2
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Key Research and Development Program of China