Treatment and management for children with urea cycle disorder in chronic stage.
10.3724/zdxbyxb-2023-0378
- VernacularTitle:尿素循环障碍患儿慢性期治疗和管理
- Author:
Xinwen HUANG
1
Author Information
1. Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China. 6305022@zju.edu.cn.
- Publication Type:Journal Article
- Keywords:
Children;
Chronic phase;
Health management;
Inborn error of metabolism;
Ornithine carbamyl transferase;
Ornithine transcarbamylase;
Review;
Urea cycle disorder
- MeSH:
Humans;
Child;
Citrullinemia/drug therapy*;
Urea Cycle Disorders, Inborn/therapy*;
Arginine;
Sodium Benzoate/therapeutic use*;
Liver Transplantation
- From:
Journal of Zhejiang University. Medical sciences
2023;52(6):744-750
- CountryChina
- Language:English
-
Abstract:
Urea cycle disorder (UCD) is a group of inherited metabolic diseases with high disability or fatality rate, which need long-term drug treatment and diet management. Except those with Citrin deficiency or liver transplantation, all pediatric patients require lifelong low protein diet with safe levels of protein intake and adequate energy and lipids supply for their corresponding age; supplementing essential amino acids and protein-free milk are also needed if necessary. The drugs for long-term use include nitrogen scavengers (sodium benzoate, sodium phenylbutyrate, glycerol phenylbutyrate), urea cycle activation/substrate supplementation agents (N-carbamylglutamate, arginine, citrulline), etc. Liver transplantation is recommended for pediatric patients not responding to standard diet and drug treatment, and those with severe progressive liver disease and/or recurrent metabolic decompensations. Gene therapy, stem cell therapy, enzyme therapy and other novel technologies may offer options for treatment in UCD patients. The regular biochemical assessments like blood ammonia, liver function and plasma amino acid profile are needed, and physical growth, intellectual development, nutritional intake should be also evaluated for adjusting treatment in time.
