Premium
Biochemical observations on a case of hepatic fructose‐1,6‐diphosphatase deficiency
Author(s) -
Hommes F. A.,
Campbell R.,
Steinhart C.,
Roesel R. A.,
Bowyer F.
Publication year - 1985
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805428
Subject(s) - fructose , medicine , endocrinology , liver enzyme , enzyme , chemistry , fructolysis , liver biopsy , enzyme assay , failure to thrive , fructose 1,6 bisphosphatase , biochemistry , biopsy
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.