methylmalonic acidemia cblB type (DOID:0060743)
Alliance: disease page
Synonyms: methylmalonic aciduria cblB type; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Alt IDs: OMIM:251110, ICD10CM:E71.1, ORDO:79311
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 MMAB gene on chromosome 12q24.