Abstract

REVIEW ARTICLE ON 'FABRY'S DISEASE'

*Fathima Syeda, *Maria Baseer, *JE Rachel Nivedita

ABSTRACT

Fabry’s disease is a rare, inherited, lysosomal storage disorder which is progressive in nature. It is caused by mutations in the GLA gene present on the X chromosome which results in the complete absence or deficiency of the lysosomal enzyme alpha glycosidase A which is responsible for the break down of fatty substances like glycosphingolipids. The accumulation of glycosphingolipids (mainly globotriaosylceramide or GL3) and its derivative globotriaosylsphingosine or lyso-Gb3 in body fluids and lysosomal cells hinders their working and triggers a cascade of cellular events which eventually leads to various complications. Fabry’s disease is initially characterized by neurological (pain), cutaneous (angiokeratoma), heat and cold intolerance, cochlea-vestibular manifestations which later progresses to renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, ventricular hypertrophy, fibrosis, valve disease, cardiac conduction abnormalities, arrhythmia), and cerebrovascular (transient ischemic attacks, strokes) manifestations if left untreated. In females the signs and symptoms may vary from mild to severe. The premative diagnosis is based on the symptoms and supported by a positive family history .The clinical diagnosis must be confirmed through determination of α-GAL A activity in leukocytes or plasma by using 4 methyllumbelliferyl –d- galactoside as substrate and/or genotyping. Different screening strategies have been carried out to detect undiagnosed Fabry patients. Enzyme replacement therapy (ERT) and oral chaperone therapy is used in the treatment of Fabry disease.

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