IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MMAA
Definition : Molecular assay reagents intended to identify mutations in the methylmalonic aciduria (cobalamin deficiency) type A (MMAA) gene, located at chromosome 4q31.21, which encodes for a protein involved in the formation of adenosylcobalamin. Adenosylocoalamin is required for the normal function of methylmalonyl-CoA mutase, which breaks down certain proteins, fats, and cholesterol. Mutations at this locus have been identified in patients with early-onset methylmalonic acidemia (MMA).
Entry Terms : "Vitamin B12-Responsive Methylmalonic Acidemia Gene Mutation Reagents" , "Methylmalonic Acidemia (MMA) Gene Mutation Reagents" , "MIMAA Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MMAA"
UMDC code : 24609