Article
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 - 1 Jul 2012
Vilarinho Laura, Marques Jorge Sales, Rocha Hugo, Ramos Altina, Lopes Lurdes, Narayan Srinivas B, Bennett Michael J
Abstract excerpt
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.
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