GLA

About GLA

GLA on chromosome Xq22.1 encodes alpha galactosidase A, a lysosomal enzyme that removes terminal galactose from glycosphingolipids. Deficient enzyme activity causes Fabry disease, an X linked lysosomal storage disorder in which globotriaosylceramide accumulates in blood vessels, kidneys, heart, and nerves. Classic disease in males typically starts in childhood with burning pain in the hands and feet, reduced sweating, and small dark red skin spots called angiokeratomas, and later leads to kidney failure, hypertrophic cardiomyopathy, and stroke. Later onset variants may mainly affect the heart or kidneys. Unlike many X linked conditions, women carrying one variant often develop symptoms, sometimes severe, due to variable X inactivation. The disease was described independently in 1898 by Johannes Fabry in Germany and William Anderson in England. Treatments include enzyme replacement and, for amenable variants, the oral chaperone migalastat.