Dimethylglycine dehydrogenase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: DMGDHD
dmgdh deficiency
DMG dehydrogenase deficiency
Number of Symptoms 6
OrphanetNr: 243343
OMIM Id: 605850
ICD-10: E72.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of serine or glycine metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
2
(HPO:0003750) Increased muscle fatiguability 8 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Elevated serum N,N-dimethylglycine (DMG) 1 / 7739
5
(OMIM) Dimethylglycine dehydrogenase (DMGDH) deficiency 1 / 7739
6
(OMIM) Elevated urinary N,N-dimethylglycine (DMG) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Moolenaar et al. (1999) described a 38-year-old man of African ancestry who was in good health and had normal intelligence. However, he complained of an abnormal body odor, which resembled the odor of fish, since the age of ...
Molecular genetics OMIM In a patient with deficiency of dimethylglycine dehydrogenase, Moolenaar et al. (1999) identified homozygosity for a missense mutation in the DMGDH gene (605849.0001).