Abstract
Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- FDPase:
-
fructose-1,6-diphosphatase
References
Alexander D, Assaf M, Khudr A, Haddad J, Barakat A (1985) Fructose-1,6-diphosphatase deficiency: diagnosis using leucocytes and detection of heterozygotes with radiochemical and spectrophotometric methods. J Inherited Metab Dis 8:174–177
Baker L, Winegrad AI (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet II:13–16
Bøyum A (1968) Separation of leucocytes from blood and bone marrow. With special reference to factors which influence and modify sedimentation properties of hematopoietic cells. Scand J Clin Lab Invest [Suppl] 97:21–28
Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248–254
Eagle RB, MacNab AJ, Ryman BE, Strang LB (1974) Liver biopsy data on a child with fructose-1,6-diphosphatase deficiency that closely resembled many aspects of glucose 6-phosphatase deficiency (van Gierke's type I glycogen-storage disease). Biochem Soc Trans 2:1118–1121
Gitzelmann R, Steinmann B, Berghe G van den (1989) Disorders of fructose metabolism. In: Scriver AL, Beaudet WS, Sly WS, Valle d (eds). The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 399–424
Hug G, Schubert WK, Chuck G (1969) Deficient activity of dephosphorylase kinase and accumulation of glycogen in the liver. J Clin Invest 48:704–715
Ito M, Kuroda Y, Kobashi H, Watanabe T, Takeda E, Toshima K, Mivao M (1984) Detection of heterozygotes for fructose-1,6-diphosphatase deficiency by measuring fructose-1,6-diphosphatase activity in their cultured peripheral lymphocytes. Clin Chim Acta 141:27–32
Melancon SB, Khachadurian AK, Nadler HL, Brown BI (1973) I. Metabolic and biochemical studies in fructose-1,6-diphosphatase deficiency. J Pediatr 82:650–657
Yokota Y (1978) Purification and characterization of alkaline phosphatase in cultured rat liver cells. J Biochem 83:1285–1292
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bührdel, P., Böhme, H.J. & Didt, L. Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. Eur J Pediatr 149, 574–576 (1990). https://doi.org/10.1007/BF01957696
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01957696