X-linked pyruvate dehydrogenase deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
mitochondrial disease |
| gptkbp:affects |
mitochondrial energy metabolism
|
| gptkbp:cause |
pyruvate dehydrogenase complex deficiency
|
| gptkbp:complication |
early death
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1970s
|
| gptkbp:frequency |
rare
|
| gptkbp:geneAffected |
gptkb:PDHA1
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked pyruvate dehydrogenase deficiency
|
| gptkbp:ICD-10_code |
E74.8
|
| gptkbp:inheritance |
X-linked
|
| gptkbp:OMIM |
300502
|
| gptkbp:symptom |
hypotonia
seizures developmental delay lactic acidosis neurological dysfunction |
| gptkbp:treatment |
gptkb:ketogenic_diet
thiamine supplementation |
| gptkbp:bfsParent |
gptkb:PDHA1
|
| gptkbp:bfsLayer |
7
|