Conditions / Genetic
methylmalonic acidemia due to transcobalamin receptor defect
info · Genetic · ICD-10: E71.1
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.
Signs and symptoms
- Methylmalonic aciduria
- Methylmalonic acidemia
- Reduced cellular cobalamin uptake
- Hyperhomocystinemia
Also known as: methylmalonic acidemia, TCblR type; methylmalonic aciduria due to transcobalamin receptor defect