Term Name: methylmalonic acidemia cblA type
Synonyms: methylmalonic aciduria cblA type, methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
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.
Ontology: Human Disease [DOID:0060742]   ( DOID:0060742 )

Relationships
is a type of: methylmalonic acidemia