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Human Disease
methylmalonic acidemia cblA type
- Term ID
- DOID:0060742
- 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. (2)
- References
-
- ICD10CM:E71.1
- MIM:251100
- ORDO:79310
- Ontology
- Human Disease ( DOID:0060742 )
- is a type of
-
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