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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2011, Number 3

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Rev Invest Clin 2011; 63 (3)

Fabry-Anderson disease: current state of knowledge

Vega-Vega O, Pérez-GutiérreAz, Correa-Rotter R

Language: Spanish
References: 59
Page: 314-321
PDF size: 143.32 Kb.


ABSTRACT

Fabry-Anderson disease is a lysosomal storage disease caused by deficiency of the enzyme α-galactosidase. This enzymatic defect results in the accumulation of glycosphingolipid into different lines cells. Usually the deficiency is complete, resulting in a multisystem disorder, with injury in different organs, predominantly heart, kidney and nervous system. However, in some patients the enzymatic deficit is partial and causes diverse clinical variants of the disease (renal or cardiac variety), this cause a difficult diagnostic and the absence of real epidemiology data. This review is about the epidemiology, the metabolic defect of this disease, it’s molecular and genetics bases, the different forms of clinical presentation and the enzyme replacement therapy.


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