Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency

• Published in: Molecular genetics and metabolism reports Vol. 3; no. C; pp. 39 - 41
• Main Authors: Scott Schwoerer, Jessica, Cooper, Gena, van Calcar, Sandra
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-06-2015; Elsevier
• Subjects: Case Report; Fatty acid oxidation; Inborn error of metabolism; Newborn screening; Rhabdomyolysis; Very long chain acyl CoA dehydrogenase deficiency; VLCADD; FAOD; DOL; Inborn error of metabolism; Fatty acid oxidation; CK; Newborn screening; VLCADD; Rhabdomyolysis; Very long chain acyl CoA dehydrogenase deficiency; NBS; NBS, newborn screening; CK, creatine kinase; DOL, day of life; FAOD, fatty acid oxidation disorder; VLCADD, very long chain acyl CoA dehydrogenase deficiency
• ISSN: 2214-4269; 2214-4269
• DOI: 10.1016/j.ymgmr.2015.03.003

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.