hrp0098p2-132 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2024
Güneş Sebla
, Göksoy Emine
, Öztürk Selvin
, Manav Zehra
, Anık Ahmet
Introduction: Diagnosing hypoglycemia-associated metabolic disorders is challenging and necessitates a methodical approach. Unlike idiopathic ketotic hypoglycemia (starvation hypoglycemia), fructose 1,6-bisphosphatase deficiency is an uncommon metabolic disorder characterized by a defect in gluconeogenesis. This disorder also causes lactic acidosis, hypertriglyceridemia, hyperuricemia, and ketonuria. This case report describes two siblings diagnosed with fruct...