ea0015p86 | Clinical practice/governance and case reports | SFEBES2008
Kazmi Azra
, Suresh Damodharan
, Kim Soo-Hyun
, Elvey Michael
, Bouloux Pierre MG
Introduction: Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder causing failure of gluconeogenesis. Multiple mutations may produce the disease, of which 960/961insG is the commonest and is pan-ethnic. Hypoglycaemia, ketosis and lactic acidosis associated with the condition are triggered by infection, fasting or fructose/sucrose/sorbitol intake.Aim: To present an atypical case of FBPase deficiency and to demonstrate findin...