methylmalonic acidemia cblA type (DOID:0060742)
Alliance: disease page
Synonyms: methylmalonic aciduria cblA type; methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
Alt IDs: OMIM:251100, ICD10CM:E71.1, ORDO:79310
Definition: A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.