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Dimethylglycine dehydrogenase deficiency(DMGDHD)

MedGen UID:
343006
•Concept ID:
C1853892
•
Disease or Syndrome
Synonyms: DMGDH DEFICIENCY; DMGDHD
SNOMED CT: Deficiency of dimethylglycine dehydrogenase (719449007); Dimethylglycine dehydrogenase deficiency (719449007)
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)
 
Gene (location): DMGDH (5q14.1)
 
Monarch Initiative: MONDO:0011610
OMIM®: 605850
Orphanet: ORPHA243343

Definition

Dimethylglycine dehydrogenase deficiency (DMGDHD) is an inborn error of metabolism characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum (Moolenaar et al., 1999). [from OMIM]

Clinical features

From HPO
Fish odor
MedGen UID:
1387060
•Concept ID:
C4477064
•
Sign or Symptom
Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.
See: Feature record | Search on this feature
Elevated urinary N,N-dimethylglycine level
MedGen UID:
1671106
•Concept ID:
C4732769
•
Finding
An increased concentration of N,N-dimethylglycine in the urine.
See: Feature record | Search on this feature
Increased muscle fatiguability
MedGen UID:
892934
•Concept ID:
C4025573
•
Finding
An abnormal, increased fatiguability of the musculature.
See: Feature record | Search on this feature
Elevated circulating creatine kinase concentration
MedGen UID:
69128
•Concept ID:
C0241005
•
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
See: Feature record | Search on this feature
Elevated circulating N,N-dimethylglycine concentration
MedGen UID:
1671019
•Concept ID:
C4732768
•
Finding
An increased concentration of N,N-dimethylglycine in the circulation.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDimethylglycine dehydrogenase deficiency
Follow this link to review classifications for Dimethylglycine dehydrogenase deficiency in Orphanet.

Recent clinical studies

Diagnosis

Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R.
McAndrew RP, Vockley J, Kim JJ
J Inherit Metab Dis 2008 Dec;31(6):761-8. Epub 2008 Oct 21 doi: 10.1007/s10545-008-0999-2. PMID: 18937046Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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