Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

Abstract

<h2>Abstract</h2> A striking deficiency of hepatic fructose-1,6-diphosphatase activity has been demonstrated in a child who has hypoglycæmia and metabolic acidosis on fasting. Liver glycogen was normal, and normal activities of all of the hepatic enzymes concerned with glycogen synthesis and degradation were noted; severe ballooning of hepatic cells by large lipid-containing vacuoles was the only histological abnormality. Oral glucose and galactose tolerance tests were normal, but oral fructose and glycerol provoked hypoglycæmia. The presence of normal levels of hepatic fructose-1-phosphate aldolase activity clearly distinguishes this disease from hereditary fructose intolerance. A sibling who died with many similar features suggests that this is an inherited defect. This new syndrome of fasting hypoglycæmia and metabolic acidosis seems to represent the clinical expression of impaired gluconeogenesis due to an inherited deficiency of hepatic fructose-1,6-diphosphatase.