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Vitamin B12-unresponsive methylmalonic acidemia type mut-

Disease definition

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

ORPHA:79312

  • Synonym(s):
    • Partial deficiency of methylmalonyl-CoA mutase
    • Vitamin B12-unresponsive methylmalonic aciduria type mut-
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.1
  • OMIM: 251000
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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