Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:affects |
glycerol metabolism
|
| gptkbp:associatedWith |
gptkb:adrenal_hypoplasia_congenita
gptkb:Duchenne_muscular_dystrophy |
| gptkbp:causedBy |
mutations in the GK gene
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay elevated glycerol in blood and urine |
| gptkbp:firstDescribed |
1970s
|
| https://www.w3.org/2000/01/rdf-schema#label |
glycerol kinase deficiency
|
| gptkbp:ICD-10_code |
E79.8
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:OMIM |
307030
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:complex_glycerol_kinase_deficiency
gptkb:isolated_glycerol_kinase_deficiency |
| gptkbp:symptom |
gptkb:hypoglycemia
muscle weakness developmental delay metabolic acidosis growth retardation |
| gptkbp:treatment |
supportive care
dietary management |
| gptkbp:bfsParent |
gptkb:Xp21.2
|
| gptkbp:bfsLayer |
6
|