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Vitamin B12-unresponsive methylmalonic acidemia type mut-

MedGen UID:
575192
Concept ID:
C0342719
Disease or Syndrome
Synonyms: Mutase- methylmalonic acidemia; Partial deficiency of methylmalonyl-CoA mutase; partial deficiency of methylmalonyl-CoA mutase; Partial deficiency of methylmalonyl-coenzyme A mutase; vitamin B12-unresponsive methylmalonic acidemia type mut-; Vitamin B12-unresponsive methylmalonic aciduria type mut-; vitamin B12-unresponsive methylmalonic aciduria type mut-
SNOMED CT: Partial deficiency of methylmalonyl-coenzyme A mutase (237946002); Partial deficiency of methylmalonyl-CoA mutase (237946002); Mutase- methylmalonic acidemia (237946002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0019267
Orphanet: ORPHA79312

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVitamin B12-unresponsive methylmalonic acidemia type mut-

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