title: Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.
abstract: Very long chain acyl CoA dehydrogenase deficiency (VLCADD) is an inborn error in long chain fatty acid oxidation with significant variability in the severity and timing of its clinical presentation. Neonatal presentations of VLCADD have included hypoglycemia and cardiomyopathy while rhabdomyolysis is usually a later onset complication. We describe a neonate with VLCADD presenting with rhabdomyolysis prior to the return of an abnormal newborn screen. This report suggests that evaluating for rhabdomyolysis, in addition to a cardiac and hepatic work-up, is an important part of the initial evaluation of an infant with an abnormal newborn screen suggesting a diagnosis of VLCADD.
authors.affiliation: Department of Pediatrics, University of Wisconsin, Madison, WI, USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Scott Schwoerer
authors.affiliation: Department of Pediatrics, University of Wisconsin, Madison, WI, USA.
authors.forename: Gena
authors.initials: G
authors.lastname: Cooper
authors.affiliation: Department of Molecular and Medical Genetics, School of Medicine and Public Health, Oregon Health and Science University, Portland, OR, USA.
authors.forename: Sandra
authors.initials: S
authors.lastname: van Calcar
keywords: CK, creatine kinase; DOL, day of life; FAOD, fatty acid oxidation disorder; Fatty acid oxidation; Inborn error of metabolism; NBS, newborn screening; Newborn screening; Rhabdomyolysis; VLCADD; VLCADD, very long chain acyl CoA dehydrogenase deficiency; Very long chain acyl CoA dehydrogenase deficiency