April 1977

Fructose-1,6-Diphosphatase Deficiency

Author Affiliations

From the Children's Hospital of Pittsburgh and the Department of Pediatrics, University of Pittsburgh School of Medicine. Dr Hopwood is now with the Department of Pediatrics, University of Michigan Hospital, Ann Arbor.

Am J Dis Child. 1977;131(4):418-421. doi:10.1001/archpedi.1977.02120170044009

• A girl aged 3 years and 11 months, with recurrent episodes of unexplained metabolic acidosis, hepatomegaly, and fasting hypoglycemia unresponsive to glucagon, showed profound falls in blood glucose levels in response to oral fructose and glycerol challenge. In vitro analysis of her hepatic glycolytic and gluconeogenic enzymes demonstrated absent fructose-1,6-diphosphatase activity. A therapeutic trial of orally given folic acid, 30 mg daily, did not improve her tolerance for fructose and glycerol. Over the next two years she showed improvement in tolerance to fasting, and to fructose and glycerol loading on dietary management.

(Am J Dis Child 131:418-421, 1977)