Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
case_report · Level V
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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.
Medical subject headings
- 3-Hydroxyacyl CoA Dehydrogenases
- Hyperinsulinism