Klin Farmakol Farm. 2007;21(1):27-30

FABRY DISEASE AND POSSIBILITIES OF ITS TREATMENT WITH ENZYME REPLACEMENT THERAPY

Vlasta Kákošová

Nemocničná lekáreň, Detská fakultná nemocnica s poliklinikou, Bratislava

Fabry disease is an X–linked, hereditary metabolic disorder characterized by a defect in the degradation of glycosphingolipids. It leads to their accumulation as lysosomal dense bodies in various tissues. The underlying cause is mutation in the gene located on the long arm of the X chromosome encoding the lysosomal enzyme, α-galactosidase A. Fabry disease (FD) is also known as Anderson-Fabry disease or angiokeratoma corporis diffusum. It belongs to rare disorders, so-called „orphan diseases“. FD takes a progressive course and the prognosis, if untreated, is bleak. Advances made in the pharmaceutical industry have offered new therapeutic possibilities in palliative (symptomatic) treatment, leading to a slight improvement in prognosis. The average life expectancy of affected males is 50–60 years. Female patients survive to their sixth or seventh decade of life. Their prognosis is generally better than in male patients with more serious manifestations of the disease occurring later in life. The main causes of death are cardiovascular events and renal failure. A major breakthrough came in 1989, when Kornreich and co-workers deciphered the genetic code of α-galactosidase, enabling the enzyme to be produced laboratory. Enzyme replacement therapy (ERT) has brought improving quality of life for the patients with FD and some of the others orphan diseases. Two commercial products of α-galactosidase A are available for ERT. Both are produced artificially from genetically engineered cells: cultured human fibroblasts in case of agasidase-alfa (REPLAGALTM); and Chinese hamster ovary cells in the case of agalsidase-beta (FABRAZYME®)

Keywords: Fabry disease, lysosomal diseases, enzyme replacement therapy

Published: January 1, 2007  Show citation