The incidence is unknown. The disorder results in fasting hypoglycemia, ketosis, and acidosis and can be fatal in newborns. Febrile illness can trigger later episodes. Symptoms can be relieved by oral glucose, or IV glucose if hypoglycemia is severe. Tolerance to fasting generally improves with age.
Inheritance is autosomal recessive.
Treatment is not required. Pyruvate Dehydrogenase Complex Deficiency Autosomal recessive and X-linked forms have been reported. The enzyme complex has many different subunits, and various genetic defects can cause deficiency. Clinical manifestations include lactic acidemia, ataxia, psychomotor retardation, and cystic lesions of the cerebral cortex, brain stem, and basal ganglia. Diagnosis is confirmed by demonstrating the absence of enzymatic activity in skin fibroblasts.