Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening

Molecular Genetics and Metabolism
Laura VilarinhoMichael J Bennett

Abstract

Medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare cause of impaired mitochondrial fatty acid oxidation. We present a case report of a patient with hyperinsulinism and homozygosity for a novel mutation causing a kinetic variant of the enzyme. The diagnosis was initially inferred by abnormal newborn screening acylcarnitine analysis with elevated C4-hydroxyacylcarnitine.

References

Nov 5, 1999·Protein Science : a Publication of the Protein Society·J J BaryckiL J Banaszak
May 5, 2005·The Journal of Pediatrics·Khalid HussainSimon Eaton
Feb 24, 2010·Journal of Inherited Metabolic Disease·Laura VilarinhoRui Vaz Osório
Feb 18, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·David M S McHughWendy M Zakowicz
Feb 25, 2011·Journal of Inherited Metabolic Disease·Esmeralda MartinsLaura Vilarinho

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