Term Name: methylmalonic acidemia cblB type
Synonyms: methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation 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 MMAB gene on chromosome 12q24.
Ontology: Human Disease [DOID:0060743]   ( DOID:0060743 )

Relationships
is a type of: methylmalonic acidemia