This Article  • Full text  • PDF  • Correction  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (87)  • Contact me when this article is cited  Related Content  • Related article  • Similar articles in JAMA  Topic Collections  • Dermatology  • Alert me on articles by topic  Social Bookmarking   What's this?

Roscoe O. Brady, MD; Raphael Schiffmann, MD

JAMA. 2000;284:2771-2775.

Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of -galactosidase A. Intracellular accumulation of globotriaosylceramide, the glycolipid substrate of this enzyme, leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. Men are predominantly affected but many female carriers have similar clinical involvement, including increased risk of stroke. Physical stigmata, such as angiokeratomas in skin and mucous membranes and characteristic benign corneal abnormalities, facilitate identification of Fabry disease. The finding of a marked decreased activity of -galactosidase A in white blood cells or cultured skin fibroblasts confirms the diagnosis. Treatment thus far has been symptomatic only. Etiology-based therapies are being developed that include enzyme replacement therapy, gene therapy, and substrate deprivation. Our recently completed double-blind, placebo-controlled trial of intravenous infusions of -galactosidase A in patients with Fabry disease demonstrated the safety and efficacy of this treatment.

Author Affiliations: Developmental Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

RELATED ARTICLE

December 6, 2000
JAMA. 2000;284(21):2803.
EXTRACT | FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Implementation of high-throughput screening for Fabry disease in Toronto dialysis patients
Rasaiah et al.
NDT Plus 2008;1:129-130.
FULL TEXT  

Enzyme replacement therapy in a murine model of Morquio A syndrome
Tomatsu et al.
Hum Mol Genet 2008;17:815-824.
ABSTRACT | FULL TEXT  

Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease
Pastores et al.
Nephrol Dial Transplant 2007;22:1920-1925.
ABSTRACT | FULL TEXT  

Weekly Enzyme Replacement Therapy May Slow Decline of Renal Function in Patients with Fabry Disease Who Are on Long-Term Biweekly Dosing
Schiffmann et al.
J. Am. Soc. Nephrol. 2007;18:1576-1583.
ABSTRACT | FULL TEXT  

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease
Kaneski et al.
Neurology 2006;67:2045-2047.
ABSTRACT | FULL TEXT  

Endocrine Dysfunction in Patients with Fabry Disease
Faggiano et al.
J. Clin. Endocrinol. Metab. 2006;91:4319-4325.
ABSTRACT | FULL TEXT  

Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease
Ries et al.
Pediatrics 2006;118:924-932.
ABSTRACT | FULL TEXT  

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
Schiffmann et al.
Nephrol Dial Transplant 2006;21:345-354.
ABSTRACT | FULL TEXT  

Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
Hoffmann et al.
J. Med. Genet. 2005;42:247-252.
ABSTRACT | FULL TEXT  

Genetics of Cerebrovascular Disorders
Meschia et al.
Mayo Clin Proc. 2005;80:122-132.
ABSTRACT  

Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy
Desnick et al.
ANN INTERN MED 2003;138:338-346.
ABSTRACT | FULL TEXT  

Biochemical and Molecular Genetic Basis of Fabry Disease
Pastores and Lien
J. Am. Soc. Nephrol. 2002;13:S130-133.
FULL TEXT  

Absence of Metabolic Cross-correction in Tay-Sachs Cells. IMPLICATIONS FOR GENE THERAPY
Martino et al.
J. Biol. Chem. 2002;277:20177-20184.
ABSTRACT | FULL TEXT  

TCR{beta} Chain Influences But Does Not Solely Control Autoreactivity of V{alpha}14J281T Cells
Gui et al.
J. Immunol. 2001;167:6239-6246.
ABSTRACT | FULL TEXT