Orphanet: Vitamin B12 unresponsive methylmalonic acidemia type mut0

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Vitamin B12-unresponsive methylmalonic acidemia type mut0

Disease definition

Vitamin B12-unresponsive methylmalonic acidemia type mut0 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.


Classification level: Subtype of disorder
  • Synonym(s):
    • Complete deficiency of methylmalonyl-CoA mutase
    • Vitamin B12-unresponsive methylmalonic aciduria type mut0
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.1
  • OMIM: 251000
  • UMLS: C1855114
  • MeSH: -
  • GARD: -
  • MedDRA: -
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