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

Vilarinho, L.; Sales Marques, J.; Rocha, H.; Ramos, A.; Lopes, L.; Narayan, S.B.; Bennett, M.J.

http://hdl.handle.net/10400.18/1053

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Resumo(s)

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.

Palavras-chave

SCHAD deficiency Acylcarnitine analysis Doenças Genéticas

URI

http://hdl.handle.net/10400.18/1053

Citação

Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13.

Editora

Elsevier

Coleções

DGH - Artigos em revistas internacionais

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