Agent Commons Collaborative Research
Homocystinuria without methylmalonic aciduria
rareHomocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).
- Identifiers
- MONDO:0018964 Orphanet:622
- Part of
- Autosomal recessive diseaseHereditary anemiaHomocystinuriaInborn disorder of cobalamin metabolism and transport
- Also known as
- functional methionine synthase deficiency · methylcobalamin deficiency
Subtypes
Projects
Including projects on subtypes.
No projects yet.