Biochemical observations on a case of hepatic fructose-1,6-diphosphatase deficiency.
A case of hepatic fructose-1,6-diphosphatase deficiency is described. She presented with congenital bilateral cataracts, failure to thrive, hypoglycaemia and hyperlactacidaemia. A liver biopsy revealed normal levels of gluconeogenic enzymes except fructose-1,6-diphosphatase which was present at 30% of the level of the lower control values. The residual activity had a normal affinity for fructose-1,6-diphosphate, a decreased sensitivity for inhibition by fructose-2,6-diphosphate and an increased resistance toward conversion to the AMP-insensitive form of the enzyme. As a result of this mutation, the residual FDPase will always be maintained in the AMP-inhibited form.
D000249:Adenosine Monophosphate / Q000494:pharmacology; D005260:Female; D015319:Fructose-1,6-Diphosphatase Deficiency; D006597:Fructose-Bisphosphatase / Q000378:metabolism; D005635:Fructosediphosphates / Q000378:metabolism / Q000494:pharmacology; D005943:Gluconeogenesis; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D008099:Liver / Q000201:enzymology*
D005635:Fructosediphosphates; D000249:Adenosine Monophosphate; C027652:fructose 2,6-diphosphate; D006597:Fructose-Bisphosphatase; C029063:fructose-1,6-diphosphate