Pyruvate dehydrogenase complex deficiency (PDCD)

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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)

Common symptoms

Onset usually within first few years of lifeoften fatal neonatally. Later infancy/early childhood onset shows neurologic (hypotoniaataxiaepilepsy) and metabolic (elevated pyruvatelactic acidosis) symptoms.

WHEN TO SUSPECT

  • Recommendation 1

    Severe lactic acidosis, cerebral atrophy and corpus callosum dysgenesis on brain imaging are suggestive

  • Recommendation 2

    tissue biopsy for PDH complex activity testing, or genetic panel required to confirm.

HOW TO TEST

  • Recommendation 1

    Severe lactic acidosis, cerebral atrophy and corpus callosum dysgenesis on brain imaging are suggestive

  • Recommendation 2

    tissue biopsy for PDH complex activity testing, or genetic panel required to confirm.

TREATMENT

  • Recommendation 1

    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).

PRIMARY CARE

  • Recommendation 1

    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

  • Recommendation 2

    bicarbonate or buffer therapy may be needed. Standard anti-seizure protocol.

FURTHER SUPPORT

  • Recommendation 1

    Hope for PDCD Foundation maintains a thorough list of trained specialists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

Sources

No data available

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