pyruvate dehydrogenase deficiency
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
mitochondrial disease |
| gptkbp:affects |
gptkb:pyruvate_dehydrogenase_complex
energy metabolism |
| gptkbp:cause |
hypotonia
seizures ataxia developmental delay lactic acidosis neurological dysfunction |
| gptkbp:causedBy |
mutation in DLAT gene
mutation in PDHA1 gene mutation in PDHB gene |
| gptkbp:diagnosedBy |
genetic testing
enzyme activity assay |
| gptkbp:firstDescribed |
1970s
|
| https://www.w3.org/2000/01/rdf-schema#label |
pyruvate dehydrogenase deficiency
|
| gptkbp:ICD-10_code |
E74.4
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:MeSH_ID |
D010857
|
| gptkbp:OMIM |
312170
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
vomiting
failure to thrive lethargy poor feeding |
| gptkbp:treatment |
gptkb:ketogenic_diet
thiamine supplementation |
| gptkbp:bfsParent |
gptkb:pyruvate_dehydrogenase
|
| gptkbp:bfsLayer |
6
|