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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jul 10;40(7):892-895. doi: 10.3760/cma.j.cn511374-20220330-00215.
[Article in 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.

Publication types

  • English Abstract

MeSH terms

  • Amino Acid Metabolism, Inborn Errors* / complications
  • Amino Acid Metabolism, Inborn Errors* / diagnosis
  • Amino Acid Metabolism, Inborn Errors* / genetics
  • Humans
  • Infant, Newborn
  • Mutation
  • Neonatal Screening
  • Prognosis
  • Propionic Acidemia*

Supplementary concepts

  • Methylmalonic acidemia