ORPHA:26
Methylmalonic acidemia with homocystinuria
Also called Combined defect in adenosylcobalamin and methylcobalamin synthesis, Methylmalonic aciduria with homocystinuria
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive, X-linked recessive
- Typical age of onset
- All ages
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:26 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Microcephaly
- Retinopathy
- Amblyopia
- Intellectual disability
- Seizure
- Hypotonia