Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings

Abstract

Two male siblings with medium-chain acyl-CoA dehydrogenase deficiency were reported, in whom the enzyme activity was essentially undetectable and the symptoms and signs, including cyanosis, apnea, low body temperature, hypoglycemia and hyperammonemia, appeared within 48 hours of life. Muscle weakness and cardiomegaly in association with morphological abnormalities of mitochondria in skeletal and cardiac muscles, respectively, were found on electron microscopic examination in one of them. These observations suggest that the patients suffered from the most severe form of the disease, which has not been described in the literature.