isolated glycerol kinase deficiency
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
glycerol metabolism
|
| gptkbp:causedBy |
mutation in the GK gene
|
| gptkbp:diagnosedBy |
measurement of glycerol kinase activity
|
| gptkbp:firstDescribed |
1970s
|
| https://www.w3.org/2000/01/rdf-schema#label |
isolated glycerol kinase deficiency
|
| gptkbp:ICD-10_code |
E79.8
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:OMIM |
307030
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
glyceroluria hyperglycerolemia |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:glycerol_kinase_deficiency
|
| gptkbp:bfsLayer |
7
|