eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyruvate dehydrogenase complex deficiency |
| Comorbidity | C0751651|mitochondrial disorder |
| Sentences | 1 |
| PubMedID- 20622343 | For patients with suspected mitochondrial disorders, the diagnosis of pyruvate dehydrogenase deficiency (pdh) with typical clinical manifestations of leigh disease was confirmed in three patients by enzyme assay of cultured skin fibroblast. |
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