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

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...

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Detalles Bibliográficos
Autores principales: Dai, Siyu, Yang, Yanting, Li, Yaqian, Liu, Hongqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9337929/
https://www.ncbi.nlm.nih.gov/pubmed/35919035
http://dx.doi.org/10.1155/2022/5611697

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9337929/
https://www.ncbi.nlm.nih.gov/pubmed/35919035
http://dx.doi.org/10.1155/2022/5611697

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