Abstract
Fabry's diease was originally conceived diagnostically as a dermatological disorder (angiokeratoma). The systemic manifestations due to blood vessel involvement of renal, cardiac, and neural tissues widened the spectruk of clinical disease. The earliest manifestations occur in childhood and are a confusing diagnostic problem. The scope of the disease lias been enlarged and manifested by the female heterozygote and by the several “forme fruste” genetic variants in males without skin lesions. Recent studies have provided explicit knoweledge about the metabolic abnormality. Increased levels of galactosyl-galactosyl-glycosyl ceramide (GL-3) in blood, urine sediment, and most tissues have been consistently noted (J. Lipid Res., 10: 188, 1969 and 11: 31, 1970). These are correlated with the absence of a specific galactosyl hydrolase in hemizygotes. Heterozygous females have intermediate levels of the lipid and partial deficiency of the enzyme. Recently, the same galactosyl hydrolase which is absent in patients with Fabry's disease has been found in normal blood plasma. This suggested the possibility the possibility of direct enzyme therapy by plasma transfer. Six hours after the plasma infusion an “enhanced” or “induced” level of enzyme was noted. This level was 20-fold greater in the recipient than could be accounted for by the amount from the donor. Therapy with plasma infusion is under active investigation at present.
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Krivit, W., Desnick, R., Mapes, C. et al. 2. Enzyme replacement in Fabry's disease. Pediatr Res 5, 83 (1971). https://doi.org/10.1203/00006450-197102000-00007
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DOI: https://doi.org/10.1203/00006450-197102000-00007