Abstract
Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?
Highlights
Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?
As an example, R118C was described in newborn screening and thought to be a late onset mutation based on cell culture activity data, but, at the time, not a single patient carrying this mutation had been described to have symptoms related to Fabry disease [8]
The overall clinical genetic and enzymatic picture is consistent with a renal variant of Fabry disease and the patient was started on enzyme replacement therapy (ERT)
Summary
Implication for health policy/practice/research/medical education: Fabry disease is caused by a deficient activity of alpha-galactosidase A (α-GalA) due to mutations in the X chromosome GLA gene. Fabry disease is caused by a deficient activity of alpha-galactosidase A (α-GalA) due to mutations in the X chromosome GLA gene. In general these variants are caused by less severe mutations, resulting in 1-5% of normal enzymatic activity, and phenotypically may not display many of the multisystem symptoms of classical Fabry disease.
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