Metadata | |
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ID | DOID:0060741 |
Name | methylmalonic acidemia due to transcobalamin receptor defect |
Definition | A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. https://www.ncbi.nlm.nih.gov/pubmed/20524213 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
methylmalonic acidemia, TCblR type [EXACT] methylmalonic aciduria due to transcobalamin receptor defect [EXACT] |
Parent Relationships |