Twenty-four-month α-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters

Summary Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A enzyme activity. Decreased enzyme activity leads to accumulation of glycosphingolipids in different tissues including endothelial cells and smooth-muscle cells and cardiomyocytes, and cardiovascu...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2008-06, Vol.31 (3), p.432-441
Main Authors: Koskenvuo, J. W., Hartiala, J. J., Nuutila, P., Kalliokoski, R., Viikari, J. S., Engblom, E., Penttinen, M., Knuuti, J., Mononen, I., Kantola, I. M.
Format: Article
Language:English
Subjects:
Adult
Aged
alpha-Galactosidase - therapeutic use
Biochemistry
Biological and medical sciences
Blood Pressure
Echocardiography, Stress
Electrocardiography
Errors of metabolism
Exercise
Fabry Disease - complications
Fabry Disease - drug therapy
Fabry Disease - physiopathology
Female
Follow-Up Studies
Heart - physiopathology
Heart Rate
Human Genetics
Humans
Hypertrophy, Left Ventricular - drug therapy
Hypertrophy, Left Ventricular - etiology
Internal Medicine
Lipids (lysosomal enzyme disorders, storage diseases)
Magnetic Resonance Imaging
Male
Medical genetics
Medical sciences
Medicine
Medicine & Public Health
Metabolic Diseases
Middle Aged
Original Article
Pediatrics
Prospective Studies
Quality of Life
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Summary:Summary Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A enzyme activity. Decreased enzyme activity leads to accumulation of glycosphingolipids in different tissues including endothelial cells and smooth-muscle cells and cardiomyocytes, and cardiovascular complications are common in the disease. Since 2001, specific enzyme replacement therapy (ERT) with α-galactosidase A has been available. It has been reported to improve clinical symptoms and quality of life. However, limited and controversial data on its efficacy to cardiac involvement have been published. Nine patients (5 male) with Fabry disease were included in an open-label prospective follow-up study of 24-month ERT. Comprehensive cardiovascular evaluation was performed by MRI, stress echocardiography and quality of life assessment. Plasma globotriaosylceramide decreased from 6.2 to 1.4 μg/ml during ERT ( p
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-008-0848-3