pyruvate decarboxylase deficiency

A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.

Signs and symptoms

• Global developmental delay
• Drooling
• Lethargy
• Seizure
• Focal T2 hyperintense basal ganglia lesion
• Irritability
• Respiratory failure
• Lower limb hypertonia
• Delayed ability to sit
• Metabolic acidosis

Also known as: deficiency of pyruvic dehydrogenase; pyruvate dehydrogenase complex deficiency disease; pyruvate dehydrogenase deficiency