Treatment of patients with isovaleric acidemia involves reducing protein intake, particularly the branched-chain amino acid leucine. During an acute episode, aggressive use of glucose and electrolytes is necessary. Glycine supplementation has proven beneficial because this amino acid is conjugated to isovalerate, forming the less harmful isovalerylglycine. Carnitine treatment is similarly effective. Strict dietary control and aggressive treatment have resulted in normal development in some patients. However, many patients with isovaleric acidemia show neurologic abnormalities from acute illness.
Because the diagnosis and therapy of isovaleric acidemia is complex, the pediatrician is advised to manage the patient in close collaboration with a consulting pediatric metabolic disease specialist and dietician. It is recommended that parents travel with a letter of treatment guidelines from the patient’s physician.