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

Jessica Scott Schwoerer, Gena Cooper, Sandra Van Calcar

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Ver 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.

Original languageEnglish (US)
Pages (from-to)39-41
Number of pages3
JournalMolecular Genetics and Metabolism Reports
Volume3
DOIs
StatePublished - Jun 1 2015

Keywords

  • deficiency
  • Fatty acid oxidation
  • Inborn error of metabolism
  • Newborn screening
  • Rhabdomyolysis
  • Very long chain acyl CoA dehydrogenase
  • VLCADD

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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