Back to Search
Start Over
[Research progress on the prognosis of patients with various types of Methylmalonic acidemia].
- Source :
-
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Jul 10; Vol. 40 (7), pp. 892-895. - Publication Year :
- 2023
-
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.
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 40
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 37368397
- Full Text :
- https://doi.org/10.3760/cma.j.cn511374-20220330-00215