Recessive mutations of sulfonylurea receptor 1 (SUR1) and potassium inward rectifier 6.2 (Kir6.2), the two adjacent genes on chromosome 11p that comprise the beta-cell plasma membrane ATP-sensitive K(+) (K(ATP)) channels, are responsible for the most common form of congenital hyperinsulinism in children. The present study was undertaken to identify the genetic defect in a family with dominantly...

PURPOSE Molecular basis of various forms of hyperinsulinemic hypoglycemia, involving defects in key genes regulating insulin secretion, are being increasingly reported. However, the management of medically unresponsive hyperinsulinism still remains a challenge as current facilities for genetic diagnosis and appropriate imaging are limited only to very few centers in the world. We aim to provide...

Persistent hyperinsulinemic hypoglycemia of infancy or congenital hyperinsulinism of the neonate is a rare condition that may cause severe neurologic damage if the disease is unrecognized or inadequately treated. Current treatment aims to restore normal blood glucose levels by providing a carbohydrate-enriched diet and drugs that inhibit insulin secretion. If medical treatment fails, then surge...

Hyperinsulinism in infancy (HI) is an important cause of severe and recurrent hypoglycaemia in newborn infants. It usually appears in infants born at term, and only one case of its occurrence in a prematurely born infant has been reported as an incidental finding. This is a report of seven infants born at 31-36 weeks gestation who experienced severe persistent hyperinsulinism. Two infants were ...

Blood glucose concentrations were measured prospectively in 27 small for dates infants in the first 48 hours after birth: 10 infants became hypoglycaemic. Of these, five had inappropriately raised plasma insulin concentrations. Plasma free fatty acids were lower and carbohydrate intake higher in these five infants, further supporting the diagnosis of hyperinsulinism. The hypoglycaemia recurred ...

Introduction Hyperglycemia in critically ill patients has not shown predict poor outcomes in those with preexisting Diabetes Mellitus (DM). Otherwise hyperglycemia in patients without DM has shown poor outcomes and generally this association reflects the severity of the disease. In addition the high level of glycemia can produce deleterious effects and is associated inversely to the survival. A...

Diazoxide is commonly used in the treatment of neonatal hyperinsulinism. We describe a one month-old infant who was treated with diazoxide for prolonged neonatal hyperinsulinism. Shortly after starting diazoxide, she was admitted to the hospital for tachypnea with hypoxemia, and was subsequently diagnosed with laryngomalacia and obstructive apnea. During hospitalization, her clinical course wor...

We have recently published on the limited effectiveness of sirolimus as a treatment option for hypoglycaemia as a consequence of hyperinsulinism. Our data oppose the view that mTOR inhibitors provide new opportunities for the treatment of patients with hyperinsulinism. We are not convinced by the argument that any benefit for some patients outweighs the potential and later long-term problems th...

1.1 Epidemiology and basic characteristics Endogenous hyperinsulinism is characterized by repeated hypoglycemic episodes caused by autonomous hypersecretion of insulin produced by adenoma or multiple microadenomatosis originating in the beta-cells of the pancreas. The process is either localized into one or less frequently few solid tumors or is more diffuse within the islets of Langerhans. End...