Journal
JOURNAL OF PEDIATRICS
Volume 146, Issue 5, Pages 706-708Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2005.01.032
Keywords
-
Categories
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available