1/3. 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.- - - - - - - - - - ranking = 1keywords = hypoglycaemia (Clic here for more details about this article) |
2/3. Isolated glucocorticoid deficiency: metabolic and endocrine studies in a 5-year-old boy.A 5-year-old boy is described who presented with episodes of hypoglycaemia triggered by mild infections or fever. Subnormal glucocorticoid production was confirmed by demonstrating low urinary excretion of free cortisol, low plasma cortisol concentrations that did not rise after glucagon and ACTH stimulation, and by elevated plasma ACTH levels. The selective nature of the abnormality was confirmed by demonstrating normal plasma electrolyte concentrations and blood pressure on a salt-restricted diet. plasma renin activity and plasma aldosterone levels were also normal and responded appropriately to salt restriction and to frusemide-induced diuresis. starvation-induced hypoglycaemia was associated with raised levels of blood ketone bodies and low blood alanine concentrations. Catecholamine secretion during hypoglycaemia was reduced. Glucocorticoid replacement therapy was effective in restoring normal glucose homeostasis.- - - - - - - - - - ranking = 0.27272727272727keywords = hypoglycaemia (Clic here for more details about this article) |
3/3. Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.Intermediary metabolite concentrations were measured in blood during fasting in two patients with fructose-1,6-bisphosphatase deficiency. Hypoglycaemia was accompanied by markedly raised levels of plasma free fatty acids, without the expected degree of ketosis. This suggests that there is secondary impairment of ketogenesis in this condition, and could lead to diagnostic confusion.- - - - - - - - - - ranking = 0.36363636363636keywords = hypoglycaemia (Clic here for more details about this article) |