Summary
A patient is described who presented with the signs and symptoms of hereditary fructose intolerance a few hours after her first fructose challenge. The diagnosis was confirmed by the demonstration of reduced activity of hepatic aldolase B towards fructose-1-phosphate. A second liver biopsy 10 months later had normal aldolase B activity towards fructose-1-phosphate and a fructose tolerance test was also normal. A possible explanation for these findings is proposed.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Adams A, Redden C, Menahem S (1990) Characterization of human fructose-1,6-bisphosphatase in control and deficient tissues.J Inher Metab Dis 13: 829–848.
Baerlocher K, Gitzelmann R, Steinmann B, Gitzelman-Cumarasamy N (1978) Hereditary fructose intolerance in early childhood: a major diagnostic challenge.Helv Pediatr Acta 33: 465–487.
Cross NCP, De Francis R, Sabastio G et al (1990) Molecular analysis of aldolase B genes in hereditary fructose intolerance.Lancet 335: 306–309.
Gitzelmann R (1978) Enzymes of fructose and galactose metabolism. In Curtis HC, Roth N, eds.Clinical Biochemistry: Principle and Methods, vol. II. Berlin: Walter de Gruyter, 1236–1239.
Gitzelmann R, Steinmann B, Van Den Berghe G (1989) Disorders of fructose metabolism. In Scriver CR, Beaudet AI, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Diseases, 6th edn. New York: McGraw-Hill, 399–424.
Kido H, Vita A, Horecker BL (1980) A one-step procedure for the isolation of fructose-1,6-bisphosphatase and fructose-1,6-bisphosphate aldolase from rabbit liver.Anal Biochem 106: 450–454.
Kodama H, Okabe I, Gunji Y, Yanagisawa M (1988) Neonatal hyperlacticacidemia caused by delayed maturation of fructose-1,6-diphosphatase activity.J Pediatr 113: 898–900.
Kaufman U, Froesch ER (1973) Inhibition of phosphorylase-a by fructose-1-phosphate, α-glycerophosphate and fructose-1,6-diphosphate: Explanation for fructose-induced hypoglycaemia in hereditary fructose intolerance and fructose-1,6-diphosphatase deficiency.Eur J Clin Invest 3: 407–413.
Munnich A, Besmond C, Darquy S et al (1985) Dietary and hormonal regulation of aldolase B gene expression.J Clin Invest 75: 1045–1052.
Panning B, Piepenbrock S (1988) Critical comments on reports of fatalities in hereditary fructose intolerance in adulthood from the viewpoint of neuroanesthesia.Anasthesie-Intensivtherapie-Notfallmedizin 23: 217–219.
Schwartz R, Gamsu H, Mulligan PB, Reisner SH, Wybregt SH, Cornblath M (1964) Transient intolerance to exogenous fructose in the new-born.J Clin Invest 43: 333–340.
Steinmann B, Gitzelmann R (1981) The diagnosis of hereditary fructose intolerance.Helv Paediatr Acta 36: 297–316.
Walker DG (1971) Development of enzymes for carbohydrate metabolism. In Benson P, ed.,Clinics in Developmental Medicine No. 37; The biochemistry of development. Heinemann, London.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Catto-Smith, A.G., Adams, A. A possible case of transient hereditary fructose intolerance. J Inherit Metab Dis 16, 73–77 (1993). https://doi.org/10.1007/BF00711318
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00711318