OXIDATIVE-PHOSPHORYLATION DEFECT ASSOCIATED WITH PRIMARY ADRENAL INSUFFICIENCY

An 18-month-old girl with an oxidative phosphorylation defect had neon atal onset of chronic lactic acidosis, lipid storage myopathy, bilater al cataracts, and primary adrenal insufficiency, Chronic lactic acidos is responded to treatment with dichloroacetate. Sequential muscle biop sies demonstrated resolution of the lipid storage myopathy associated with the return to normal muscle free carnitine levels, This case demo nstrates a new clinical phenotype associated with a defect in oxidativ e phosphorylation and the need to consider mitochondrial disorders in the differential diagnosis of primary adrenal insufficiency in childho od.