TY - JOUR
T1 - Lysosomal leukocyte β-D-glucuronidase during enzyme replacement therapy in Fabry disease
AU - Goi, Giancarlo
AU - Massaccesi, Luca
AU - Burlina, Alessandro P.
AU - Baquero Herrera, Claudia J.
AU - Lombardo, Adriana
AU - Tettamanti, Guido
AU - Burlina, Alberto B.
PY - 2005/9/25
Y1 - 2005/9/25
N2 - 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.
AB - 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.
KW - β-D-Glucuronidase
KW - Biochemical monitoring
KW - Enzyme replacement therapy
KW - Fabry disease
KW - Lysosomal enzyme
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U2 - 10.1016/j.bbadis.2005.05.002
DO - 10.1016/j.bbadis.2005.05.002
M3 - Article
C2 - 15967645
AN - SCOPUS:25144449141
VL - 1741
SP - 300
EP - 306
JO - Biochimica et Biophysica Acta - Molecular Basis of Disease
JF - Biochimica et Biophysica Acta - Molecular Basis of Disease
SN - 0925-4439
IS - 3
ER -