ESPE Abstracts

Introduction: Tyrosinaemia type 1 (TT1) is a rare autosomal recessively inherited disorder of tyrosine metabolism leading to accumulation of tyrosine and its metabolites in liver, kidney and central nervous system. TT1 is a heterogeneous disorder with a broad spectrum of clinical manifestations. Hypoglycaemia is common, especially in the acute phase of the disease due to liver failure and reduced hepatic clearance of insulin. However, confirmed cases of hyperi...

Background: Hypoglycaemic episodes in patients with Congenital Hyperinsulinism (CHI) are not always detected due to the intermittent measurement of blood glucose concentrations, particularly the asymptomatic episodes. Detecting and treating these episodes is important for prevention of hypoglycaemic brain injury. Although the Continuous Glucose Monitoring System (CGMS) is widely used in adults and children with diabetes, the use in patients with CHI remains li...

Background: Lanreotide, a prolonged-release somatostatin analogue, has been utilized off-label for nearly a decade to treat cases of congenital hyperinsulinism (CHI) that do not respond to diazoxide. Acute side-effects of Lanreotide include diarrhoea and topical allergic reactions. Long-term effects include hepatitis, gallstones, growth suppression, hypothyroidism and gastrointestinal dysmotility. However, limited number of case series have documented the long...