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hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.
Mondo Term and Equivalent IDs
MONDO:0009278:  hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
GARD:0009870: 
MESH:C535310: 
Orphanet:71212: