Genetic counseling in Pompe disease

Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glucosidase enzyme by which it is degraded. It is a rare disease, accounting for 1:40.000 births. It is inherited as an autosomal recessive trait so that a couple presents a recurrent risk of 25% to have...

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Autores principales: Taglia, Antonella, Picillo, Esther, D'Ambrosio, Paola, Rosaria Cecio, Maria, Viggiano, Emanuela, Politano, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2011
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298105/
https://www.ncbi.nlm.nih.gov/pubmed/22616199
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author Taglia, Antonella
Picillo, Esther
D'Ambrosio, Paola
Rosaria Cecio, Maria
Viggiano, Emanuela
Politano, Luisa
author_facet Taglia, Antonella
Picillo, Esther
D'Ambrosio, Paola
Rosaria Cecio, Maria
Viggiano, Emanuela
Politano, Luisa
author_sort Taglia, Antonella
collection PubMed
description Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glucosidase enzyme by which it is degraded. It is a rare disease, accounting for 1:40.000 births. It is inherited as an autosomal recessive trait so that a couple presents a recurrent risk of 25% to have a child affected, at each pregnancy. The diagnosis could be achieved by biochemical and/ or molecular testing. Carrier detection and prenatal diagnosis are available when the molecular defect is known.
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spelling pubmed-32981052012-03-09 Genetic counseling in Pompe disease Taglia, Antonella Picillo, Esther D'Ambrosio, Paola Rosaria Cecio, Maria Viggiano, Emanuela Politano, Luisa Acta Myol Original Articles Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glucosidase enzyme by which it is degraded. It is a rare disease, accounting for 1:40.000 births. It is inherited as an autosomal recessive trait so that a couple presents a recurrent risk of 25% to have a child affected, at each pregnancy. The diagnosis could be achieved by biochemical and/ or molecular testing. Carrier detection and prenatal diagnosis are available when the molecular defect is known. Pacini Editore SpA 2011-12 /pmc/articles/PMC3298105/ /pubmed/22616199 Text en The journal and the individual contributions contained in it are protected by the copyright of Gaetano Conte Academy, Naples, Italy http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License, which permits for noncommercial use, distribution, and reproduction in any digital medium, provided the original work is properly cited and is not altered in any way. For details, please refer to http://creativecommons.org/licenses/by-nc-nd/3.0/
spellingShingle Original Articles
Taglia, Antonella
Picillo, Esther
D'Ambrosio, Paola
Rosaria Cecio, Maria
Viggiano, Emanuela
Politano, Luisa
Genetic counseling in Pompe disease
title Genetic counseling in Pompe disease
title_full Genetic counseling in Pompe disease
title_fullStr Genetic counseling in Pompe disease
title_full_unstemmed Genetic counseling in Pompe disease
title_short Genetic counseling in Pompe disease
title_sort genetic counseling in pompe disease
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298105/
https://www.ncbi.nlm.nih.gov/pubmed/22616199
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