DOI: 10.36347/sjmcr.2019.v07i01.027

Pages: 91-92

Very-long-chain acyl-coenzyme A (CoA) dehydrogenase deficiency is an autosomal recessive disorder of fatty acid B-oxidation with significant variable presentation. The Main presentation are hypoketotic hypoglycemic, hepatomegaly, cardiomyopathy, myopathy and rhabdomyolysis, we present a case report of 2 days old Saudi neonate who presented with non ketotic hypoglycemia, hepatomegaly, high lactic acid level and high creatine kinase. He was diagnosed as very long chain acyl coenzyme A dehydrogenase deficiency based on newborn metabolic screen