eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyruvate dehydrogenase complex deficiency |
| Comorbidity | C0001125|lactic acidosis |
| Sentences | 2 |
| PubMedID- 24363178 | Patients with this defect do not display the lactic acidosis typical of pdh deficiency, and overall pdh activity is decreased only ~30–50 %. |
| PubMedID- 24047108 | Missense mutations in pdhe1α gene, which weaken the transfer of substrates as we did using rnai, lead to pdh deficiency and are associated with lactic acidosis and central nervous system dysfunction [36,38]. |
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