Rare Zebra

Rare disease search prototype built on Orphanet data

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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