Abstract
Summary: A male patient presented with oligosymptomatic Fabry disease (end stage renal failure and non-obstructive cardiomyopathy) at around 30 years of age. His leukocyte α-galactosidase activity (α-gal) was 2.6% of controls. A 50-year-old sister had similar cardiac symptoms and her asymptomatic heterozygous daughter (33 years) had normal enzyme activity.
All three patients carried a novel, 6bp insertion on exon 7 of the AGAL gene. The majority of male Fabry patients carrying mutations in exon 7 have residual α-gal below 1% and suffer from neuropathic pain. Comparable oligosymptomatic phenotypes in Caucasian patients carry a common mutation on exon 6 (R301Q) and have a significantly later onset.
The course of the disease is likely to be altered by recombinant enzyme therapy in the future. Therefore, a thorough documentation of phenotypes, residual activities and underlying genotypes is of current interest.
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Kroepfl, T., Paul, K., Kotanko, P. et al. A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease. J Inherit Metab Dis 25, 695–696 (2003). https://doi.org/10.1023/A:1022833332162
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DOI: https://doi.org/10.1023/A:1022833332162