Description
Fabry disease, or Anderson-Fabry disease, is a hereditary disorder belonging to the group of lysosomal storage diseases caused by a significant decrease in activity or a total deficiency of the α-galactosidase A enzyme. The absence or deficiency of this enzyme leads to the accumulation of globotriaosylceramide and related glycophospholipids in the lysosomes of cells in various organs, including the heart, kidneys, nervous system, and vascular endothelium. The disease presents with a wide spectrum of clinical symptoms. In childhood, it is often accompanied by pain in the hands and feet, angiokeratomas, hypohidrosis, and asthenia, while in older age, it is further complicated by abdominal pain, renal impairment, cardiac involvement, and the possibility of transient ischemic attacks and stroke. DNA sequencing of the GLA gene is the most accurate method for diagnosing Fabry disease.
Period of execution
Within 10 days. The specified time does not include the day of biomaterial collection
Biomaterial type