ETFDH and Encephalopathy: While the molecular basis of the metabolic pathology in MADD can be explained by the malfunction of fatty acid, choline and amino acid metabolism as a result of ETF or ETFDH mutation [5], it remains unclear why individuals with MADD exhibit other defects, especially neurological defects including cortex dysplasia, encephalopathy and leukodystrophy[32], [33], [34], [35].