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Metadata
ID DOID:0060742
Name methylmalonic acidemia cblA 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.
https://www.ncbi.nlm.nih.gov/pubmed/12438653, https://www.ncbi.nlm.nih.gov/pubmed/5686220
Xrefs

ICD10CM:E71.1

OMIM:251100

ORDO:79310

Synonyms

methylmalonic aciduria cblA type [EXACT]

methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type [EXACT]

Parent Relationships

is_a methylmalonic acidemia

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