ORPHA:79282
Methylmalonic acidemia with homocystinuria, type cblC
Also called CblC defect, Cobalamin C defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC, Methylmalonic aciduria with homocystinuria, type cblC
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:79282 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Intellectual disability
- Megaloblastic anemia
- Hyperhomocystinemia
- Methylmalonic acidemia
- Methylmalonic aciduria
- Elevated propionylcarnitine level