Fabry disease. Sequencing of the GLA gene [1 gene]

Fabry disease is a hereditary lysosomal disorder caused by a deficiency of the enzyme α-galactosidase A (α-Gal A) that results in progressive accumulation of globotriaosylceramide (Gb3). This disease has an X-linked inheritance pattern, where males present the classic form of Fabry disease, characterized by almost complete absence of
α-Gal A activity, onset during childhood or adolescence, and presence of acroparesthesia, angiokeratoma, hypoor
hyperhidrosis, proteinuria, corneal and lenticular opacity, impaired kidney function with kidney failure between the third and fifth decades of live, cardiac and cerebrovascular complications; while heterozygous females typically present less severe forms with symptoms that have a later onset than in males.

• Acroparesthesia
• Angiokeratoma
• Anhydrosis, hypohydrosis or hyperhydrosis (rare)
• Corneal and lenticular opacities
• Stroke
• Ventricular hypertrophy
• Kidney failure
• Proteinuria
• Glomerulosclerosis

Prevalence: 1-5/10,000

• Angiotensin-converting enzyme inhibitors
• Angiotensin receptor blockers
• Hemodialysis and kidney transplantation
• Enzyme replacement therapy
• Genetic counseling
• Pharmacological treatment for acroparesthesia