ORPHA:369955
Methylmalonic acidemia with homocystinuria, type cblJ
Also called CblJ defects, Cobalamin J defect, Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ, Methylmalonic aciduria with homocystinuria, type cblJ
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:369955 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.