Orphanet: Methylmalonic acidemia with homocystinuria type cblF

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Methylmalonic acidemia with homocystinuria type cblF

Disease definition

cblF 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.


Classification level: Subtype of disorder
  • Synonym(s):
    • CblF defect
    • Cobalamin F defect
    • Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
    • Lysosomal membrane cobalamin transporter deficiency
    • Methylmalonic aciduria with homocystinuria, type cblF
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E72.1
  • OMIM: 277380
  • UMLS: C1848578
  • MeSH: -
  • GARD: 3584
  • MedDRA: -
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