Neutropenia and impaired neutrophil function in glycogenosis type Ib

J Inherit Metab Dis. 1984;7(4):151-4. doi: 10.1007/BF01805597.

Abstract

The impairment of different neutrophil functions has recently been reported in some patients with glycogenosis Ib and neutropenia. However, no satisfactory explanation for these findings has so far been supplied. In order to investigate this problem, we have studied neutrophil functions (random locomotion and chemotaxis, O-2 release, [1-14C]glucose oxidation and cellular cytotoxicity) in two further patients with glycogenosis Ib and neutropenia. The results show that neutrophil dysfunctions related to the involvement of both hexose monophosphate shunt and anaerobic glycolysis were variable. The heterogeneity of neutrophil functional impairment in glycogenosis Ib and their possible relationship with the basic metabolic defect of the disease are discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agranulocytosis / etiology*
  • Chemotaxis, Leukocyte
  • Child
  • Child, Preschool
  • Cytotoxicity, Immunologic
  • Female
  • Glycogen Storage Disease Type I / complications*
  • Glycogen Storage Disease Type I / immunology
  • Glycogen Storage Disease Type I / metabolism
  • Glycolysis
  • Humans
  • Hydrogen Peroxide / metabolism
  • Neutropenia / etiology*
  • Neutrophils / immunology
  • Neutrophils / metabolism*
  • Pentose Phosphate Pathway
  • Superoxides / metabolism

Substances

  • Superoxides
  • Hydrogen Peroxide