Hepatic metabolites and uric excretion in fructose -1,6- diphosphatase deficiency

Abstract

There have been a small number of patients reported with inherited disorders of gluconeogenesis. We studied a female patient with fructose-1,6-diphosphatase (FDPase; EC 3.1.3.11) deficiency (McKusick 22970), born of consanguineous parents (inbreeding coefficient 1/32). Since 4 months of age, she presented with many episodes of ketosis, lactic acidosis and hypoglycaemia, which, on two occasions, were accompanied by seizures. Blood uric acid was abnormally high (0.485 mmol L-1) but below normal in urine (1.85 mmol g creatinine).