Acute symptoms of HMG-CoA lyase deficiency should be treated with IV glucose, bicarbonate for the metabolic acidosis and restriction of protein (leucine). During an acute episode, patients may require assisted ventilation. For the long-term treatment, affected patients should avoid fasting and restrict protein intake.
Because the diagnosis and therapy of HMG-CoA lyase deficiency is complex, the pediatrician is advised to manage the patient in close collaboration with a consulting pediatric metabolic disease specialist. It is recommended that parents travel with a letter of treatment guidelines from the patient’s physician.