Orphanet: Methylmalonic acidemia with homocystinuria, type cblD

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Methylmalonic acidemia with homocystinuria, type cblD

Disease definition

cblD 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 variable biochemical, neurological and hematological manifestations.


Classification level: Subtype of disorder
  • Synonym(s):
    • CblD defect
    • Cobalamin D defect
    • Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
    • Methylmalonic aciduria with homocystinuria, type cblD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.1
  • OMIM: 277410
  • UMLS: C1848552
  • MeSH: -
  • GARD: 3582
  • MedDRA: -
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