Search Ontology:
Human Disease

methylmalonic acidemia due to transcobalamin receptor defect

Term ID
DOID:0060741
Synonyms
  • methylmalonic acidemia, TCblR type
  • methylmalonic aciduria 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
References
Ontology
Human Disease   ( DOID:0060741 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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