ChinaResearch and clinical trials
28 ASA patients in China: liver transplant corrected ammonia but did not prevent developmental delay
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
At a center in Shanghai, 28 patients with ASA followed between 2011 and 2024 were reviewed. Symptoms usually began in the first days of life. Five patients died in their first year. Most survivors had developmental delay. In 8 patients who had a liver transplant, ammonia levels normalized, but developmental delay could not be prevented.
What does it mean for patients and families?
This is a retrospective study from a single center. The results show the importance of early diagnosis and follow-up at a specialist center.
Source
Scientific paper: Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China. Orphanet Journal of Rare Diseases, 2025. DOI: 10.1186/s13023-025-04026-2 · PubMed 41068918
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Argininosuccinic aciduria (ASA)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.