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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Ketotic hypoglycaemia in children with diazoxide responsive hyperinsulinism of infancy.

Hyperinsulinism of infancy (HI) is a cause of persistent and recurrent hypoglycaemia in infancy and childhood, which if untreated can cause significant brain damage and mental retardation. The biochemical hallmark of hyperinsulinism is hypofattyacidaemic, hypoketotic hyperinsulinaemic hypoglycaemia. Diazoxide is the first line medical treatment for persistent HI. Diazoxide is an agonist of the pancreatic beta-cell KATP channel and inhibits insulin secretion. Children who develop recurrent hypoglycaemia while on therapy with diazoxide are thought to be unresponsive to this medication or non compliant with medical therapy. We report a novel observation of "ketotic" hypoglycaemia in two children on diazoxide therapy for persistent HI. Detailed assessment of the intermediary metabolites and hormones at the time of the hypoglycaemia showed appropriate insulin suppression with appropriate increases in the serum levels of non-esterified fatty acids and ketone bodies as well as an intact counter-regulatory hormone response. The precise mechanism of the hypoglycaemia is unclear. CONCLUSION: These cases illustrate that recurrent hypoglycaemia while on diazoxide therapy may be due to other mechanisms and does not imply diazoxide unresponsiveness or non-compliance.[1]

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