European Journal of Pediatrics

, Volume 149, Issue 8, pp 574–576 | Cite as

Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency

  • P. Bührdel
  • H. -J. Böhme
  • L. Didt
Metabolic Diseases


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.

Key words

Fructose-1,6-diphosphatase deficiency Gluconeogenesis Hypoglycaemia Neonatal hyperbilirubinaemia 





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  1. 1.
    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 8:174–177Google Scholar
  2. 2.
    Baker L, Winegrad AI (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet II:13–16Google Scholar
  3. 3.
    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] 97:21–28Google Scholar
  4. 4.
    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 72:248–254Google Scholar
  5. 5.
    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 2:1118–1121Google Scholar
  6. 6.
    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 399–424Google Scholar
  7. 7.
    Hug G, Schubert WK, Chuck G (1969) Deficient activity of dephosphorylase kinase and accumulation of glycogen in the liver. J Clin Invest 48:704–715Google Scholar
  8. 8.
    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 141:27–32Google Scholar
  9. 9.
    Melancon SB, Khachadurian AK, Nadler HL, Brown BI (1973) I. Metabolic and biochemical studies in fructose-1,6-diphosphatase deficiency. J Pediatr 82:650–657Google Scholar
  10. 10.
    Yokota Y (1978) Purification and characterization of alkaline phosphatase in cultured rat liver cells. J Biochem 83:1285–1292Google Scholar

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • P. Bührdel
    • 1
  • H. -J. Böhme
    • 2
  • L. Didt
    • 2
  1. 1.Children's HospitalSchool of Medicine Karl-Marx-UniversityLeipzigGerman Democratic Republic
  2. 2.Institute of BiochemistrySchool of Medicine Karl-Marx-UniversityLeipzigGerman Democratic Republic

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