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Metadata
ID DOID:0060743
Name methylmalonic acidemia cblB 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.
https://www.ncbi.nlm.nih.gov/pubmed/12471062, https://www.ncbi.nlm.nih.gov/pubmed/7213387
Xrefs

ICD10CM:E71.1

OMIM:251110

ORDO:79311

Synonyms

methylmalonic aciduria cblB type [EXACT]

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

Parent Relationships

is_a methylmalonic acidemia

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