Literature DB >> 15870679

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

Khalid Hussain1, Peter T Clayton, Steve Krywawych, Ilenia Chatziandreou, Phillipa Mills, D W Ginbey, Ans J J M Geboers, Ruud Berger, Inge E T van den Berg, Simon Eaton.   

Abstract

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.

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Year:  2005        PMID： 15870679     DOI： 10.1016/j.jpeds.2005.01.032

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  18 in total

Review 1.  The structure and allosteric regulation of mammalian glutamate dehydrogenase.

Authors:  Ming Li; Changhong Li; Aron Allen; Charles A Stanley; Thomas J Smith
Journal:  Arch Biochem Biophys       Date:  2011-11-04       Impact factor: 4.013

Review 2.  Glutamate dehydrogenase: structure, allosteric regulation, and role in insulin homeostasis.

Authors:  Ming Li; Changhong Li; Aron Allen; Charles A Stanley; Thomas J Smith
Journal:  Neurochem Res       Date:  2013-10-12       Impact factor: 3.996

3.  3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.

Authors:  Florina Ion Popa; Silvia Perlini; Francesca Teofoli; Daniela Degani; Silvia Funghini; Giancarlo La Marca; Piero Rinaldo; Monica Vincenzi; Franco Antoniazzi; Attilio Boner; Marta Camilot
Journal:  JIMD Rep       Date:  2011-09-06

4.  Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.

Authors:  Changhong Li; Pan Chen; Andrew Palladino; Srinivas Narayan; Laurie K Russell; Samir Sayed; Guoxiang Xiong; Jie Chen; David Stokes; Yasmeen M Butt; Patricia M Jones; Heather W Collins; Noam A Cohen; Akiva S Cohen; Itzhak Nissim; Thomas J Smith; Arnold W Strauss; Franz M Matschinsky; Michael J Bennett; Charles A Stanley
Journal:  J Biol Chem       Date:  2010-07-29       Impact factor: 5.157

5.  Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Authors:  Esmeralda Martins; M Luis Cardoso; Esmeralda Rodrigues; Clara Barbot; Altina Ramos; Michael J Bennett; Elisa Leão Teles; Laura Vilarinho
Journal:  J Inherit Metab Dis       Date:  2011-02-24       Impact factor: 4.982

Review 6.  Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.

Authors:  Charles A Stanley
Journal:  Neurochem Int       Date:  2010-12-02       Impact factor: 3.921

Review 7.  Congenital hyperinsulinism due to mutations in HNF4A and HADH.

Authors:  Ritika R Kapoor; Amanda Heslegrave; Khalid Hussain
Journal:  Rev Endocr Metab Disord       Date:  2010-09       Impact factor: 6.514

Review 8.  Pathophysiology of fatty acid oxidation disorders.

Authors:  M J Bennett
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

Review 9.  Mechanisms of amino acid-stimulated insulin secretion in congenital hyperinsulinism.

Authors:  Tingting Zhang; Changhong Li
Journal:  Acta Biochim Biophys Sin (Shanghai)       Date:  2012-12-04       Impact factor: 3.848

Review 10.  Advances in the diagnosis and management of hyperinsulinemic hypoglycemia.

Authors:  Ritika R Kapoor; Chela James; Khalid Hussain
Journal:  Nat Clin Pract Endocrinol Metab       Date:  2009-02
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