Novel Mutation of Early, Perinatal-Onset, Myopathic-Type Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency

Korematsu, Seigo; Kosugi, Yujiro; Kumamoto, Toshihide; Yamaguchi, Seiji; Izumi, Tatsuro

doi:10.1016/j.pediatrneurol.2009.02.020

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Cited by 6 publications

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“…In those with VLCADD, one neonate presented with transient elevations in CK (8400 U/L) after a complicated delivery [15] . This patient was later diagnosed with VLCADD after recurrent rhabdomyolysis associated with illness in infancy and early childhood.…”

Section: Discussionmentioning

confidence: 99%

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

Schwoerer

Cooper

Calcar

2015

Molecular Genetics and Metabolism Reports

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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.

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Section: Discussionmentioning

confidence: 99%