Rare Zebra

Rare disease search prototype built on Orphanet data

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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