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| Disease found: | Pyruvate dehydrogenase complex deficiency (PDCD) |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | inherited genetic defect in PDH complex; impaired conversion of pyruvate to acetyl-CoA for entry into Krebs/TCA cycle (cannot produce ATP through oxidative phosphorylation) [more info] |
| Signs and Symptoms: | Onset usually within first few years of life; often fatal neonatally. Later infancy/early childhood onset shows neurologic (hypotonia, ataxia, epilepsy) and metabolic (elevated pyruvate, lactic acidosis) symptoms. [more info] |
| Diagnosis: | Severe lactic acidosis, cerebral atrophy and corpus callosum dysgenesis on brain imaging are suggestive; tissue biopsy for PDH complex activity testing, or genetic panel required to confirm. |
| Treatment: | No disease-specific treatments. Dichloroacetate can help with lactic acidosis. Open-label case report findings suggest benefit of ketogenic diet and thiamine supplement (300-1000mg/day). [more info] |
| Clinical Management: | 6-12 month neurologic, developmental, and musculoskeletal assessments for surveillance. Physical therapy and/or PM&R care to assist with functionality. Monitor for metabolic acidosis; bicarbonate or buffer therapy may be needed. Standard anti-seizure protocol. [more info] |
| Referral: | Hope for PDCD Foundation maintains a thorough list of trained specialists. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | Registry trials are currently recruiting. Trials of sodium phenylbutyrate and dichloracetate may occur. |