Treatment in Fabry disease

Publication date: Available online 30 April 2018Source: Revista Clínica Española (English Edition)Author(s): M. López RodríguezAbstractFabry disease is an X-linked inborn disease caused by deficit of alpha-galactosidase A. This results in accumulation of glycosphingolipids in all cells and tissues. All males should receive enzyme replacement treatment in case of very low or undetectable levels of alpha-galactosidase A. Female carriers and males with marginally levels of alpha-galactosidase A should be treated in case of renal, neurologic o cardiac manifestations. There are two intravenous formulations of human recombinant enzyme, agalsidase alpha and agalsidase beta, showing similar efficacy and safety. Patients with amenable mutations of alpha-galactosidase can be treated with oral migalastat hydrochloride. Migalastat hydrochloride is a pharmacological chaperone that facilitates trafficking of alpha-galactosidase A to lysosomes increasing enzyme activity. Patients treated with migalastat hydrochloride had significant improvements in left ventricular mass and gastrointestinal symptoms.ResumenLa enfermedad de Fabry es una enfermedad ligada al cromosoma X causada por un déficit de alfa-galactosidasa A. Esto da como resultado la acumulación de glicoesfingolípidos en todas las células y tejidos. Todos los varones deben tratarse con reemplazo enzimático en caso de presentar niveles muy bajos o indetectables de alfa-galactosidasa A. Las mujeres portadoras y los varones con...
Source: Revista Clinica Espanola - Category: Internal Medicine Source Type: research