Fabry’s Disease
Fabry’s disease is an x-linked recessive lipid storage disease where there is an accumulation of the glycosphingolipid,
GL-3 (Globotriosylceramide or ceramide trihexoside).
The etiology is a lack of the enzyme, α-Galactosidase
which cleaves terminal galactosyl moieties from its conjugate.
As a consequence there is an accumulation in cellular lysosomes
of the glycosphingolipid. This ultimately leads to cardiac, brain
and kidney disease in the third and fourth decades of life, and
may culminate in death by the fourth and fifth decade.
Earliest symptoms may present in early adolescence, and are characterized by acroparesthesias,
anhydrosis, dysautonomia, angiokeratomata, abdominal cramps and corneal dystrophy. Later in the disease patients
may present with proteinuria, abnormal renal function, left ventricular hypertrophy, neurologic
symptoms. The disease is progressive if not treated. Therapy in the United States is available with
recombinant enzyme marketed as agalisidase.
References:
- Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004;75(1):65-74.
- Teragaki M, Tanaka A, Akioka K, et al. Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy. Jpn Heart J 2004;45(4):685-9.
- Spinelli L, Pisani A, Sabbatini M, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet 2004;66(2):158-65.
- Fuller M, Lovejoy M, Brooks DA, Harkin ML, Hopwood JJ, Meikle PJ. Immunoquantification of {alpha}-Galactosidase: Evaluation for the Diagnosis of Fabry Disease. Clin Chem 2004;50(11):1979-85.
- Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138(4):338-46.
- Brenner BM, Grünfeld J-P. Renoprotection by enzyme replacement therapy. Curr Opin Nephrol Hypertens 2004;13(2):231-41.
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