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Vitamin B12-unresponsive methylmalonic acidemia type mut0

MedGen UID:
575191
•Concept ID:
C0342718
•
Disease or Syndrome
Synonyms: Complete deficiency of methylmalonyl-CoA mutase; complete deficiency of methylmalonyl-CoA mutase; Complete deficiency of methylmalonyl-coenzyme A mutase; Mutase0 methylmalonic acidemia; vitamin B12-unresponsive methylmalonic acidemia type mut0; Vitamin B12-unresponsive methylmalonic aciduria type mut0; vitamin B12-unresponsive methylmalonic aciduria type mut0
SNOMED CT: Complete deficiency of methylmalonyl-coenzyme A mutase (237945003); Mutase0 methylmalonic acidemia (237945003); Complete deficiency of methylmalonyl-CoA mutase (237945003)
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).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017360
Orphanet: ORPHA289916

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVitamin B12-unresponsive methylmalonic acidemia type mut0

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