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Article

Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.

Genetics research - 1 Jan 2022

Dai Siyu, Yang Yanting, Li Yaqian, Liu Hongqian

Abstract excerpt

Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder mainly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MMUT) and leads to the reduced activity of MCM. In this study, a 3-year-old girl was diagnosed with carnitine deficiency secondary to methylmalonic acidemia by tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GS/MS). Whole-exome...

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Identifiers

PMID: 35919035
DOI: 10.1155/2022/5611697
PMCID: PMC9337929

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