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- Title
Methylmalonic acidemia: Neurodevelopment and neuroimaging.
- Authors
Tao Chen; Yian Gao; Shengdong Zhang; Yuanyuan Wang; Chaofan Sui; Linfeng Yang
- Abstract
Methylmalonic acidemia (MMA) is a genetic disease of abnormal organic acid metabolism, which is one of the important factors affecting the survival rate and quality of life of newborns or infants. Early detection and diagnosis are particularly important. The diagnosis of MMA mainly depends on clinical symptoms, newborn screening, biochemical detection, gene sequencing and neuroimaging diagnosis. The accumulation of methylmalonic acid and other metabolites in the body of patients causes brain tissue damage, which can manifest as various degrees of intellectual disability and severe neurological dysfunction. Neuroimaging examination has important clinical significance in the diagnosis and prognosis of MMA. This review mainly reviews the etiology, pathogenesis, and nervous system development, especially the neuroimaging features of MMA.
- Subjects
NEWBORN infants; ACIDOSIS; BRAIN imaging; NEURAL development; METHYLMALONIC acid
- Publication
Frontiers in Neuroscience, 2023, Vol 17, p1
- ISSN
1662-4548
- Publication type
Article
- DOI
10.3389/fnins.2023.1110942