HMG CoA synthetase deficiency
Overview
An inherited metabolic defect due to the deficiency of an enzyme (HMG CoA synthetase) needed to form ketone bodies. Symptoms are often preceded by periods of fasting or illness
Symptoms
* Low ketone level * Hypoglycemia * Encephalopathy * Enlarged liver
Diagnosis
signs and symptoms of HMG CoA synthetase deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed HMG CoA synthetase deficiency symptoms.