For more information, see table Some Sphingolipidoses.
Fabry disease is an X-linked deficiency of the lysosomal enzyme alpha-galactosidase A, which is needed for normal trihexosylceramide catabolism. Glycolipid (globotriaosylceramide) accumulates in many tissues (eg, vascular endothelium, lymph vessels, heart, kidney).
Diagnosis in males is clinical, based on appearance of typical skin lesions (angiokeratomas) over the lower trunk and by characteristic features of peripheral neuropathy (causing recurrent burning pain in the extremities), corneal opacities, and recurrent febrile episodes. Death results from renal failure or cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.
Diagnosis of Fabry disease is by DNA analysis and/or assay of galactosidase activity—prenatally in amniocytes or chorionic villi and postnatally in serum or white blood cells. (Also see testing for suspected inherited disorders of metabolism.)
Treatment of Fabry disease is enzyme replacement with recombinant alpha-galactosidase A (agalsidase beta) combined with supportive measures for fever and pain. Kidney transplantation is effective for treating renal failure.