ORPHA:369962
Methylmalonic acidemia with homocystinuria, type cblX
Also called Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX, Methylmalonic aciduria with homocystinuria, type cblX
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- X-linked recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:369962 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.