dimethylglycine dehydrogenase deficiency
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
metabolic disorder |
| gptkbp:affects |
mitochondrial metabolism
|
| gptkbp:causedBy |
mutation in DMGDH gene
|
| gptkbp:characterizedBy |
elevated dimethylglycine in plasma
elevated dimethylglycine in urine |
| gptkbp:diagnosedBy |
genetic testing
urine organic acid analysis |
| gptkbp:firstDescribed |
1980s
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
dimethylglycine dehydrogenase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
605850
|
| gptkbp:symptomsMayInclude |
hypotonia
developmental delay |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:DMG_(gene)
|
| gptkbp:bfsLayer |
8
|