Lysosomal leukocyte β-D-glucuronidase during enzyme replacement therapy in Fabry disease

Giancarlo Goi, Luca Massaccesi, Alessandro P. Burlina, Claudia J. Baquero Herrera, Adriana Lombardo, Guido Tettamanti, Alberto B. Burlina

Research output: Contribution to journalArticlepeer-review


Objective: Fabry disease results from a deficiency in the activity of α-D-galactosidase A and subsequent accumulation of neutral glycosphingolipids in lysosomes. This study investigated whether lysosomal enzymes can indicate biochemical changes in the lysosomal apparatus induced by enzyme replacement therapy (ERT). Design and methods: Eight patients were monitored by clinical and biochemical tests and several lysosomal glycohydrolases were measured in plasma and leucocytes. Results: Before starting ERT, β-D-glucuronidase in leukocytes was markedly increased. After 1 month of therapy, enzyme levels dropped in all patients. In the patients who regularly followed the therapy, the enzyme levels remained stable for the next 20 months. In one patient who interrupted therapy for 2 months, the enzyme levels rose again. Conclusions: Lysosomal enzymes can be useful for monitoring biochemical changes in patients with Fabry disease receiving ERT. Though these findings refer to only a small number of patients, the correlation between β-D-glucuronidase levels and ERT is interesting and might serve as a basis for further studies to define the potential of this enzyme in monitoring the effects of ERT in lysosomal storage disorders.

Original languageEnglish
Pages (from-to)300-306
Number of pages7
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Issue number3
Publication statusPublished - Sep 25 2005


  • β-D-Glucuronidase
  • Biochemical monitoring
  • Enzyme replacement therapy
  • Fabry disease
  • Lysosomal enzyme

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Biophysics


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