Research progress on the prognosis of patients with various types of Methylmalonic acidemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 892-895, 2023.
Article
in Zh
| WPRIM
| ID: wpr-981843
Responsible library:
WPRO
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.
Full text:
1
Database:
WPRIM
Main subject:
Prognosis
/
Neonatal Screening
/
Propionic Acidemia
/
Amino Acid Metabolism, Inborn Errors
/
Mutation
Limits:
Humans
/
Newborn
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2023
Document type:
Article