Fabry's disease. A brief review in connection with a Scandinavian survey

Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism, resulting from deficient activity of the enzyme alpha-galactosidase. The wide variety of symptoms may make it difficult to establish a diagnosis. This study was based on a Scandinavian survey of cases between 1967 and 1975. Altogether 13 cases were collected. Enzymatic studies and electromicroscopy confirmed the diagnosis in all cases. Renal transplantation has been performed in one Swedish patient and 8 years later his general health is good. Three of the patients died at about 50 years of age, which illustrates the grave prognosis of the disease. The report is concluded with a short review of the symptomatology, diagnosis and treatment of Fabry's disease. The possibility of enzyme replacement therapy and the potential value of renal transplantation are discussed. Prenatal diagnosis of Fabry's disease may also be possible.