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Methylmalonic acidemia with homocystinuria, type cblC

Disease definition

cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

ORPHA:79282

  • Synonym(s):
    • CblC defect
    • Cobalamin C defect
    • Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
    • Methylmalonic aciduria with homocystinuria, type cblC
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.1
  • OMIM: 277400
  • UMLS: -
  • MeSH: -
  • GARD: 12128
  • MedDRA: -

Additional information

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