Fabry disease: management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Fabry disease: management. Alpha galactosidase: this is deficient in white cells, fibroblasts, and plasma. Fully referenced neurology checklist.
Blood tests
- Alpha galactosidase: this is deficient in white cells, fibroblasts, and plasma
- DNA analysis: this is done if the alpha galactosidase level is normal or mildly reduced
Magnetic resonance imaging (MRI) brain
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Magnetic resonance spectroscopy (MRS)
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Slit lamp examination findings
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Other investigations
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Treatment of crises
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Chaperone therapy: Migalastat
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Enzyme replacement therapy
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References
- MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38:750-760.
- Kolodny EH, Pastores GM. Anderson-Fabry disease: extrarenal, neurologic manifestations. J Am Society Nephrol 2002; 13:S150-as153.
- Ginsberg L, Valentine A, Mehta A. Fabry disease. Pract Neurol 2005; 5:110-113.
- Fellgiebel A, Muller MJ, Ginsberg L. CNS manifestations of Fabry's disease. Lancet Neurol 2006; 5:791-795.
- Chong PF, Nakamura K, Kira R. Mulberries in the urine: a tell-tale sign of Fabry disease. J Inherit Metab Dis 2018; doi: 10.1007/s10545-018-0155-6 (Epub ahead of print).
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