Fabry disease.
Fabry disease is an inherited enzyme deficiency of galactosidase A that results in various phenotypes: classic, cardiac or renal. It can present variably and may represent an important cause of occult neurological and cardiac syndromes and renal failure. Preclinical and clinical studies demonstrate effectiveness of enzyme infusion in controlling and preventing these manifestations of the disease.
Levin
Mark
M
Department of Hematology and Oncology, University Hospital of New Jersey Medical School, Newark, New Jersey, USA.