hrp0092p2-143 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019
Sotiridou Ellada
, Aftab Sommayya
, Dastamani Antonia
, Doodson Louise
, Batzios Spyros
, Shah Pratik
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...