Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism

Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A (CTSA) gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Galactosialidos...

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Autores principales: Okulu, E, Tunc, G, Eminoglu, T, Erdeve, O, Atasay, B, Arsan, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972510/
https://www.ncbi.nlm.nih.gov/pubmed/29876240
http://dx.doi.org/10.1515/bjmg-2017-0031
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author Okulu, E
Tunc, G
Eminoglu, T
Erdeve, O
Atasay, B
Arsan, S
author_facet Okulu, E
Tunc, G
Eminoglu, T
Erdeve, O
Atasay, B
Arsan, S
author_sort Okulu, E
collection PubMed
description Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A (CTSA) gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Galactosialidosis is an autosomal recessive inherited disease and has been divided into three subtypes based on age of onset and the severity of clinical manifestations. We report an early infantile form of galactosialidosis in a newborn with a novel mutation on the CTSA gene.
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spelling pubmed-59725102018-06-06 Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism Okulu, E Tunc, G Eminoglu, T Erdeve, O Atasay, B Arsan, S Balkan J Med Genet Case Report Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A (CTSA) gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Galactosialidosis is an autosomal recessive inherited disease and has been divided into three subtypes based on age of onset and the severity of clinical manifestations. We report an early infantile form of galactosialidosis in a newborn with a novel mutation on the CTSA gene. Sciendo 2017-12-29 /pmc/articles/PMC5972510/ /pubmed/29876240 http://dx.doi.org/10.1515/bjmg-2017-0031 Text en © 2017 Okulu E, Tunc G, Eminoglu T, Erdeve O, Atasay B, Arsan S, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/3.0 This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
spellingShingle Case Report
Okulu, E
Tunc, G
Eminoglu, T
Erdeve, O
Atasay, B
Arsan, S
Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism
title Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism
title_full Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism
title_fullStr Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism
title_full_unstemmed Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism
title_short Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism
title_sort galactosialidosis in a newborn with a novel mutation in the ctsa gene presenting with transient hyperparathyroidism
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972510/
https://www.ncbi.nlm.nih.gov/pubmed/29876240
http://dx.doi.org/10.1515/bjmg-2017-0031
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