complex glycerol kinase deficiency
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
males predominantly
|
| gptkbp:alsoKnownAs |
CGKD
|
| gptkbp:category |
inborn error of metabolism
contiguous gene syndrome |
| gptkbp:diagnosedBy |
genetic testing
biochemical analysis |
| gptkbp:firstDescribed |
1970s
|
| https://www.w3.org/2000/01/rdf-schema#label |
complex glycerol kinase deficiency
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
Xp21
|
| gptkbp:mutationAssociatedWith |
gptkb:DMD_gene
DAX1 gene GK gene |
| gptkbp:OMIM |
307030
|
| gptkbp:symptom |
gptkb:hypoglycemia
developmental delay muscular dystrophy adrenal insufficiency growth retardation glyceroluria |
| gptkbp:treatment |
hormone replacement therapy
symptomatic management |
| gptkbp:bfsParent |
gptkb:glycerol_kinase_deficiency
|
| gptkbp:bfsLayer |
7
|