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Review
. 2023 Jan 26:17:1110942.
doi: 10.3389/fnins.2023.1110942. eCollection 2023.

Methylmalonic acidemia: Neurodevelopment and neuroimaging

Tao Chen  1 , Yian Gao  2 , Shengdong Zhang  3 , Yuanyuan Wang  4 , Chaofan Sui  2 , Linfeng Yang  5
Affiliations
Review

Methylmalonic acidemia: Neurodevelopment and neuroimaging

Tao Chen et al. Front Neurosci. .

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.

Keywords: diagnosis; methylmalonic acidemia; nervous system injury; neurodevelopmental characteristics; neuroimaging.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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