Research progress on the prognosis of patients with various types of Methylmalonic acidemia.
10.3760/cma.j.cn511374-20220330-00215
- Author:
Shiying LING
1
;
Ruixue SHUAI
;
Lianshu HAN
Author Information
1. Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Pediatric Research, Shanghai 200092, China. hanlianshu@xinhuamed.com.cn.
- Publication Type:Journal Article
- MeSH:
Infant, Newborn;
Humans;
Amino Acid Metabolism, Inborn Errors/complications*;
Prognosis;
Mutation;
Neonatal Screening;
Propionic Acidemia
- From:
Chinese Journal of Medical Genetics
2023;40(7):892-895
- CountryChina
- Language:Chinese
-
Abstract:
Methylmalonic acidemia (MMA) is a series of rare inherited organic acid metabolic disorders with variable and nonspecific clinical manifestations, in particular neurological symptoms such as vomiting, lethargy, etc. Even with timely treatment, patients may still have various degrees of neurological complications and can even die. The prognosis is mainly related to the type of genetic variants, level of metabolites, newborn screening, onset of disease and early initiation of treatment. This article has reviewed the prognosis of patients with various types of MMA and factors that may affect it.
