Consensus on diagnosis and treatment of ornithine trans-carbamylase deficiency.
10.3785/j.issn.1008-9292.2020.04.11
- Collective Name:Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health
- Publication Type:Review
- Keywords:
Diagnosis;
Experts consensus;
Hyperammonemia;
Ornithine transcarbamylase deficiency;
Treatment
- MeSH:
Humans;
Hyperammonemia/etiology*;
Liver Transplantation;
Nervous System Diseases/prevention & control*;
Ornithine Carbamoyltransferase Deficiency Disease/therapy*
- From:
Journal of Zhejiang University. Medical sciences
2020;49(5):539-547
- CountryChina
- Language:Chinese
-
Abstract:
Ornithine transcarbamylase deficiency(OTCD)is a most common ornithine cycle (urea cycle) disorder. It is a X-link inherited disorder caused by
