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Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene |
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| Authors: | 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 |
| Affiliation: | 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. |
| 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. |
| Keywords: | SCHAD Short-chain 3-hydroxyacyl-CoA dehydrogenase |
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