Progress in Fabry disease / 国际儿科学杂志

ABSTRACT

Fabry disease is an inherited metabolic disease, resulting from a deficiency of the enzyme a-galactosidase A activity. Principal clinical manifestation of Fabry disease was limb pain episodes, angioceratoma, and progressive damage of heart,brain, kidney. Although Fabry disease cannot be cured at present,early diagnosis and enzyme replacement therapy can change the prognosis completely.