what type of mutation is fabry disease
Fabry disease: A genetic disease caused by a mutation in the GLA gene, resulting in a deficiency of the enzyme alpha-galactosidase A, also known as ceramide trihexosidase.This enzyme is essential to the metabolism of a fat compound known as globotriaosylceramide.abry disease: A genetic disease caused by a mutation in the GLA gene, resulting in a deficiency of the enzyme alpha-galactosidase A, also known as ceramide trihexosidase.