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

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.

Key words

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

Abbreviation

FDPase

fructose-1,6-diphosphatase

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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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