Case Reports
doi: 10.1016/j.jpeds.2005.01.032.
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene
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- PMID: 15870679
- DOI: 10.1016/j.jpeds.2005.01.032
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Case Reports
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene
J Pediatr.
2005 May.
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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