Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.

Hussain, Khalid; Clayton, Peter T; Krywawych, Steve; Chatziandreou, Ilenia; Mills, Phillipa; Ginbey, D W; Geboers, Ans J J M; Berger, Ruud; van den Berg, Inge E T; Eaton, Simon

Hussain, Khalid; Clayton, Peter T; Krywawych, Steve; Chatziandreou, Ilenia; Mills, Phillipa; Ginbey, D W; Geboers, Ans J J M; Berger, Ruud; van den Berg, Inge E T; Eaton, Simon.

Afiliação

Hussain K; London Centre for Paediatric Endocrinology and Metabolism, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, 30 Guilford Street, London WC1N 1EH, UK.

J Pediatr ; 146(5): 706-8, 2005 May.

Article em En | MEDLINE | ID: mdl-15870679

RESUMO

Fatty acids play an important role in regulating insulin secretion, but the mechanisms are unclear. We report a case of a novel splice site mutation in the short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) gene associated with hyperinsulinism. This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity.

Assuntos

3-Hidroxiacil-CoA Desidrogenases/genética; Hiperinsulinismo/genética; 3-Hidroxiacil-CoA Desidrogenases/metabolismo; Clorotiazida/uso terapêutico; Diazóxido/uso terapêutico; Diuréticos; Humanos; Hiperinsulinismo/tratamento farmacológico; Lactente; Masculino; Mutação Puntual; Inibidores de Simportadores de Cloreto de Sódio/uso terapêutico

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: 3-Hidroxiacil-CoA Desidrogenases / Hiperinsulinismo Tipo de estudo: Risk_factors_studies Limite: Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 2005 Tipo de documento: Article País de publicação: Estados Unidos

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