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

• ICD10CM:E71.1
• OMIM:613646
• ORDO:280183

Ontology

Human Disease   ( DOID:0060741 )