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Pyruvate dehydrogenase complex deficiency

  • Causes a buildup of pyruvate that gets shunted to lactate (via LDH) and alanine (via ALT).
  • X-linked.
  • Findings
    • Neurologic defects, lactic acidosis, ↑ serum alanine starting in infancy.
  • Treatment
    • ↑ intake of ketogenic nutrients (eg, high fat content or ↑ lysine and leucine).

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