U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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).
 
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

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...