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Vitamin B12-responsive methylmalonic acidemia

Disease definition

Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).

ORPHA:28

  • Synonym(s):
    • Adenosylcobalamin deficiency
    • Vitamin B12-responsive methylmalonic aciduria
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E71.1
  • OMIM: 251100  251110  277410
  • UMLS: -
  • MeSH: -
  • GARD: 12623
  • MedDRA: -

Additional information

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