[Research progress on the prognosis of patients with various types of Methylmalonic acidemia].

doi:10.3760/cma.j.cn511374-20220330-00215

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Article

[Research progress on the prognosis of patients with various types of Methylmalonic acidemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2023

Ling Shiying, Shuai Ruixue, Han Lianshu

Abstract excerpt

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...

Topics

Infant, Newborn
Humans
Amino Acid Metabolism, Inborn Errors
Prognosis
Mutation
Neonatal Screening
Propionic Acidemia

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Open in PubMed

Identifiers

PMID: 37368397
DOI: 10.3760/cma.j.cn511374-20220330-00215

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