The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Abstract Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only the identification of a pathogenic mutation in the GLA gene allows for a definite diagnosis. The hurdle to be overcome in this field is to determine whether a mutation that has never been described determines a ‘‘classic’’ or ‘‘nonclassic’’ phenotype, because this will have an impact on the decision-making for treatment initiation. Besides the enzymatic determination and GLA gene mutation determination, researchers are still searching for a good biomarker, and it seems that plasma lyso-Gb3 is a useful tool that correlates to the degree of substrate storage in organs. The ideal time for treatment initiation for children and nonclassic phenotype remains unclear.
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Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
2017
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oai:scielo:S2326-459420170001003032019-05-14The Challenge of Diagnosis and Indication for Treatment in Fabry DiseaseCuriati,Marco A.Aranda,Carolina S.Kyosen,Sandra O.Varela,PatriciaPereira,Vanessa G.D’Almeida,VaniaPesquero,João B.Martins,Ana M. genotype-phenotype correlation enzyme replacement therapy alpha-galactosidase A deficiency dried blood spot on filter paper screening Abstract Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only the identification of a pathogenic mutation in the GLA gene allows for a definite diagnosis. The hurdle to be overcome in this field is to determine whether a mutation that has never been described determines a ‘‘classic’’ or ‘‘nonclassic’’ phenotype, because this will have an impact on the decision-making for treatment initiation. Besides the enzymatic determination and GLA gene mutation determination, researchers are still searching for a good biomarker, and it seems that plasma lyso-Gb3 is a useful tool that correlates to the degree of substrate storage in organs. The ideal time for treatment initiation for children and nonclassic phenotype remains unclear.info:eu-repo/semantics/openAccessLatin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)Journal of Inborn Errors of Metabolism and Screening v.5 20172017-01-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100303en10.1177/2326409816685735 |
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Curiati,Marco A. Aranda,Carolina S. Kyosen,Sandra O. Varela,Patricia Pereira,Vanessa G. D’Almeida,Vania Pesquero,João B. Martins,Ana M. |
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Curiati,Marco A. Aranda,Carolina S. Kyosen,Sandra O. Varela,Patricia Pereira,Vanessa G. D’Almeida,Vania Pesquero,João B. Martins,Ana M. The Challenge of Diagnosis and Indication for Treatment in Fabry Disease |
author_facet |
Curiati,Marco A. Aranda,Carolina S. Kyosen,Sandra O. Varela,Patricia Pereira,Vanessa G. D’Almeida,Vania Pesquero,João B. Martins,Ana M. |
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Curiati,Marco A. |
title |
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease |
title_short |
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease |
title_full |
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease |
title_fullStr |
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease |
title_full_unstemmed |
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease |
title_sort |
challenge of diagnosis and indication for treatment in fabry disease |
description |
Abstract Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only the identification of a pathogenic mutation in the GLA gene allows for a definite diagnosis. The hurdle to be overcome in this field is to determine whether a mutation that has never been described determines a ‘‘classic’’ or ‘‘nonclassic’’ phenotype, because this will have an impact on the decision-making for treatment initiation. Besides the enzymatic determination and GLA gene mutation determination, researchers are still searching for a good biomarker, and it seems that plasma lyso-Gb3 is a useful tool that correlates to the degree of substrate storage in organs. The ideal time for treatment initiation for children and nonclassic phenotype remains unclear. |
publisher |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
publishDate |
2017 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100303 |
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