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

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 o...

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Veröffentlicht in:	The Journal of pediatrics 2005-05, Vol.146 (5), p.706-708
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	3-Hydroxyacyl CoA Dehydrogenases - genetics 3-Hydroxyacyl CoA Dehydrogenases - metabolism Biological and medical sciences Chlorothiazide - therapeutic use Diazoxide - therapeutic use Diuretics General aspects Humans Hyperinsulinism - drug therapy Hyperinsulinism - genetics Infant Male Medical sciences Point Mutation Sodium Chloride Symporter Inhibitors - therapeutic use
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Beschreibung
Zusammenfassung:	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.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2005.01.032