Medium-chain 3-ketoacyl-coA thiolase deficiency
Overview
A rare disorder where the body lacks enzymes needed to convert some fats (medium-chain fatty acids) into energy and hence these fats build up in the body and cause damage.
Symptoms
* Vomiting * Lack of energy * Lethargy * Low blood sugar * Seizures * Breathing difficulty * Liver problems * Cardiac arrest * Brain damage * Coma * Risk of sudden death * Neurological damage * Hepatic encephalopathy
Prevention
The mainstay in the treatment of MCAD deficiency is avoidance of fasting for more than 12 hours. * Infants require frequent feedings. * It is recommended that toddlers receive 2 g/kg of uncooked cornstarch as a source of complex carbohydrates at bedtime to ensure sufficient glucose supply overnight. * A relatively low-fat diet (e.g., <30% of total energy from fat) could be beneficial.
Treatment
All affected individuals should have a frequently updated "emergency" letter to be given, if needed, to health care providers who may not be familiar with MCAD deficiency. This letter should include a detailed explanation of the management of acute metabolic decompensation, emphasizing the importance of preventive measures (e.g., intravenous glucose regardless of "normal" laboratory results, overnight in-hospital observation), and the telephone numbers of the individual's metabolic specialist.