Pyruvate Dehydrogenase Deficiency (PDCD) Differential Diagnoses

Updated: Aug 17, 2018
  • Author: Richard E Frye, MD, PhD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations

Pyruvate carboxylase deficiency presents with similar chemical and central nervous system findings as pyruvate dehydrogenase complex deficiency. Enzyme testing is required to distinguish between the two conditions.

Other conditions to consider in the differential diagnosis include the following:

  • D-Lactic acidosis

  • Gluconeogenesis abnormalities

  • Mitochondrial electron transport chain disorders

Differential Diagnoses