Term Name: | methylmalonic acidemia cblB type |
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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 ) |