Glutaric aciduria type II, or multiple acyl-CoA dehydrogenase deficiency is an autosomal recessively inherited defect of mitochondrial energy metabolism. The authors report two cases of late-onset glutaric aciduria type II, and evaluate the procedures for the diagnosis and treatment of this rare disease.
Department of Pediatrics, Tongji Hospital, Center for the Diagnosis of Genetic Metabolic Diseases, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.