pyruvate dehydrogenase E1-alpha deficiency
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
mitochondrial disease |
| gptkbp:affects |
gptkb:pyruvate_dehydrogenase_complex
|
| gptkbp:cause |
lactic acidosis
neurological dysfunction |
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1970s
|
| https://www.w3.org/2000/01/rdf-schema#label |
pyruvate dehydrogenase E1-alpha deficiency
|
| gptkbp:inheritance |
X-linked
|
| gptkbp:mutationAssociatedWith |
PDHA1 gene
|
| gptkbp:OMIM |
312170
|
| gptkbp:symptom |
hypotonia
seizures developmental delay |
| gptkbp:treatment |
gptkb:ketogenic_diet
thiamine supplementation |
| gptkbp:bfsParent |
gptkb:PDHA1
|
| gptkbp:bfsLayer |
7
|