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Title: Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening
Authors: Vilarinho, L.
Sales Marques, J.
Rocha, H.
Ramos, A.
Lopes, L.
Narayan, S.B.
Bennett, M.J.
Keywords: SCHAD deficiency
Acylcarnitine analysis
Doenças Genéticas
Issue Date: 2012
Publisher: Elsevier
Citation: Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13.
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.
Peer review: yes
ISSN: 1096-7192
Publisher Version:
Appears in Collections:DGH - Artigos em revistas internacionais

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