Table 4.

Pyruvate Dehydrogenase Complex Deficiency: Management by Genetic Cause

GeneTreatmentReferences / GeneReview
  • Ketogenic diet
  • Thiamine (300-1000 mg/day) has been used w/limited success. 1
Friedman et al [2017]
PDHA1 Fouque et al [2003], DeBrosse et al [2012], Patel et al [2012]
PDHB Okajima et al [2008]
PDHX Tajir et al [2012]
PDP1 Bedoyan et al [2019]
  • Branched-chain amino acid restriction
  • Dextrose-containing IV fluids
  • Riboflavin (220-400 mg/day)
  • Acetaminophen & ethanol are contraindicated.
See also Dihydrolipoamide Dehydrogenase Deficiency.

From: Primary Pyruvate Dehydrogenase Complex Deficiency Overview

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