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methylmalonic aciduria and homocystinuria type cblF
Summary
- Synonym
-
- Cobalamin F deficiency
- MAHCF
- Definition
- A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
- Super Class
- methylmalonic acidemia
External Links
- Disease Ontology
- DOID:0050717
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
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