Abstract

K. M. Jyoshna*, K. V. Vidhya, K. Devika and K. T. Naik

ABSTRACT

Fabry disease (FD) is an X-linked lysosomal storage illness characterised by aprogressive, life-threatening multisystem disease caused by intracellularglycosphingolipids accumulation (mostly globotriaosylceramide [Gb3]). This iscaused by a deficiency in α-galactosidase A (GLA/AGAL) function. Its incidencerate estimated over 1 in 1000 to 9000 people. Caused by mutation in GLA gene andFabry disease is a monogenic, recessive inheritance disorder linked to the Xchromosome that leads to lack of α -galactosidase A (α-GAL A) activity. it isclassified into two types classic ( symptoms start at age 2) and atypical type(symptoms start at age thirty-five or above). Disease pathology includes organspecific or secondary changes that reflect organ abnormalities and dysfunction. Itcause Gb3 to accumulate in various cells and tissues that include skin, eyes, kidney,heart, brain and peripheral nervous system that lead to profuse symptoms such asburning sensation, dark red skin patches, cloudiness of the eyes etc. diagnosedthrough enzyme assay, genetics & screening in new born. Present treatment plansfor Fabry disease is enzyme replacement therapy (ERT), chaperone therapy andpalliative & adjunct therapy.