Untargeted Metabolomics Reveals Distinct Metabolic Profiles in MMA Patients with MUT Gene Mutations

Abstract excerpt

<title>Abstract</title> <p> Methylmalonic acidemia (MMA), the most prevalent congenital organic acidemia, is inherited in an autosomal recessive pattern due to <italic>MUT</italic> gene mutations that impair methylmalonyl-CoA mutase (MCM) enzyme activity, leading to the toxic accumulation of methylmalonic acid, which causes mitochondrial dysfunction, metabolic disruptions, and multisystem damage. Newborn scree...

Topics

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• Amino Acid Metabolism, Inborn Errors
• China
• Genotype
• Infant
• Infant, Newborn
• Movement Disorders
• Mutation
• Tandem Mass Spectrometry

Identifiers and source

Literature Corpus work

063989b6-d025-5973-8b0e-1534331827bb

DOI

10.21203/rs.3.rs-6570059/v1