Pyruvate Dehydrogenase Complex Deficiency Differential Diagnoses

Updated: Feb 18, 2016
  • Author: Richard E Frye, MD, PhD; Chief Editor: Luis O Rohena, MD  more...
  • Print
DDx

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