Fabry disease is an X-linked recessive lysosomal storage disorder caused by a partial or complete deficiency of
alpha-galactosidase A. Intracellular accumulation of
globotriaosylceramide, the
glycolipid substrate of this
enzyme, leads to severe
painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. Men are predominantly affected but many female carriers have similar clinical involvement, including increased risk of
stroke. Physical stigmata, such as
angiokeratomas in skin and mucous membranes and characteristic benign corneal abnormalities, facilitate identification of
Fabry disease. The finding of a marked decreased activity of (
alpha-galactosidase A in plasma, white blood cells or cultured skin fibroblasts confirms the diagnosis. Treatment thus far has been symptomatic only. Etiology-based
therapies are being developed that include
enzyme replacement therapy, gene therapy, and substrate deprivation. The recently completed double-blind, placebo-controlled trials of
intravenous infusions of (
alpha-galactosidase A in patients with
Fabry disease demonstrated the safety and efficacy of this treatment. We report a family with
Fabry disease composed of hemicygous and heterocygous. The propositus developed
chronic renal failure and received a cadaver renal transplant, which remained with adequate renal function during 15 years.