Information about normal hepatic glucose metabolism may help to understand pathogenic
mechanisms underlying obesity and diabetes mellitus. In addition, liver glucose metabolism …

Context: Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in
children. The risk of permanent brain injury in infants with HI continues to be as high as 25 …

Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …

Context: Hypoglycemia due to congenital hyperinsulinism (HI) is caused by mutations in 9
genes. Objective: Our objective was to correlate genotype with phenotype in 417 children …

Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are
maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic …

Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive, or non-Mendelian trait or may present as …

To date, more than 30 genes have been linked to monogenic diabetes. Candidate gene and
genome-wide association studies have identified> 50 susceptibility loci for common type 1 …

Background Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition.
Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and …

Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the
unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic …