Progress of diagnosis and treatment of Fabry disease / 中华实用儿科临床杂志

ABSTRACT

Fabry disease is a rare X-linked hereditary lysosomal storage disease, which is caused by GLA gene mutation, reduced or absent activity of α-galactosidase A (α-Gal A), which disturbs the glycosphingolipid metabolism and leads to accumulation of metabolic substrates globotriaosylceramide (GL-3) and its derivative deacetylated GL-3 (Lyso-GL-3), which results in multiple organ diseases.Because the clinical manifestations lack specificity, it is necessary to combine the detection of enzyme activity, biomarker GL-3 and Lyso-GL-3, pathology and gene detection for early diagnosis.At present, the main treatment methods are enzyme replacement therapy and oral chaperone therapy.The purpose of this paper is to update the diagnosis and treatment of Fabry disease.