Monogenic Hyperinsulinemic Hypoglycemia DisordersEditor(s): Stanley C.A. (Philadelphia, Pa.)
De León D.D. (Philadelphia, Pa.)
The Molecular Genetics and Pathophysiology of Congenital Hyperinsulinism Caused by Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencyMolven A.a,b · Helgeland G.a,c · Sandal T.a,b · Njølstad P.R.c,d
aThe Gade Institute and Departments of bPathology, cClinical Medicine and dPediactrics, Haukeland University Hospital, University of Bergen, Bergen, Norway
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Deficiency of the metabolic enzyme short-chain 3-hydroxyacyl-CoA (SCHAD) is a rare autosomal recessive form of congenital hyperinsulinism of infancy caused by mutations in the HADH gene on chromosome 4q. Most cases reported to date are from ethnicities where consanguineous marriages are relatively frequent. SCHAD-deficient patients have normal or slightly elevated birth weights. Hypoglycemia most often manifests within the first 6 months of life and is diazoxide-sensitive. Although SCHAD participates in the degradation of fatty acids, the patients usually do not present a clinical picture that would suggest a fatty acid oxidation disorder. Metabolic profiling may, however, reveal an increased level of 3-hydroxybutyryl-carnitine in blood and the presence of 3-hydroxyglutaric acid in urine. Recently, it was demonstrated that SCHAD serves to inhibit the activity of glutamate dehydrogenase in the pancreatic beta-cells, a finding that also explains why SCHAD-deficient patients tend to be protein-intolerant.
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