Zusammenfassung
Fabry disease is a X-linked recessively inherited metabolic disorder, resulting in a deficient activity of the lysosomal hydrolase a-galactosidase A leading to systemic deposition of glycosphingolipids and multiple organic lesions with a fatal clinical progress in the fourth or fifth decade. We report about a 33-year old male patient with Fabry's disease and typical neurological complications of ...
Zusammenfassung
Fabry disease is a X-linked recessively inherited metabolic disorder, resulting in a deficient activity of the lysosomal hydrolase a-galactosidase A leading to systemic deposition of glycosphingolipids and multiple organic lesions with a fatal clinical progress in the fourth or fifth decade. We report about a 33-year old male patient with Fabry's disease and typical neurological complications of cerebrovascular events in adolescense and recurrent excruciating pain episodes involving the extremities. Clinical symptoms and diagnostic procedures of this rare metabolic disease will be described. From a therapeutic point of view, the availability of a new enzyme replacement therapy is an important breakthrough for patients with Fabry disease.
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