Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to...

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Autores principales: Alegra, Taciane, Koppe, Tiago, Acosta, Angelina, Sarno, Manoel, Burin, Maira, Kessler, Rejane Gus, Sperb-Ludwig, Fernanda, Cury, Gabriela, Baldo, Guilherme, Matte, Ursula, Giugliani, Roberto, Schwartz, Ida Vanessa D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287872/
https://www.ncbi.nlm.nih.gov/pubmed/25606425
http://dx.doi.org/10.1016/j.mgene.2014.03.003
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author Alegra, Taciane
Koppe, Tiago
Acosta, Angelina
Sarno, Manoel
Burin, Maira
Kessler, Rejane Gus
Sperb-Ludwig, Fernanda
Cury, Gabriela
Baldo, Guilherme
Matte, Ursula
Giugliani, Roberto
Schwartz, Ida Vanessa D.
author_facet Alegra, Taciane
Koppe, Tiago
Acosta, Angelina
Sarno, Manoel
Burin, Maira
Kessler, Rejane Gus
Sperb-Ludwig, Fernanda
Cury, Gabriela
Baldo, Guilherme
Matte, Ursula
Giugliani, Roberto
Schwartz, Ida Vanessa D.
author_sort Alegra, Taciane
collection PubMed
description Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to be heterozygous for the most common GNPTAB mutation. As in some carriers of Mucolipidosis II biochemical abnormalities may hinder prenatal diagnosis, we suggest DNA analysis should be performed whenever possible.
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spelling pubmed-42878722015-01-20 Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report Alegra, Taciane Koppe, Tiago Acosta, Angelina Sarno, Manoel Burin, Maira Kessler, Rejane Gus Sperb-Ludwig, Fernanda Cury, Gabriela Baldo, Guilherme Matte, Ursula Giugliani, Roberto Schwartz, Ida Vanessa D. Meta Gene Article Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to be heterozygous for the most common GNPTAB mutation. As in some carriers of Mucolipidosis II biochemical abnormalities may hinder prenatal diagnosis, we suggest DNA analysis should be performed whenever possible. Elsevier 2014-06-01 /pmc/articles/PMC4287872/ /pubmed/25606425 http://dx.doi.org/10.1016/j.mgene.2014.03.003 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-sa/3.0/ This is an open access article under the CC BY-NC-SA license (http://creativecommons.org/licenses/by-nc-sa/3.0/).
spellingShingle Article
Alegra, Taciane
Koppe, Tiago
Acosta, Angelina
Sarno, Manoel
Burin, Maira
Kessler, Rejane Gus
Sperb-Ludwig, Fernanda
Cury, Gabriela
Baldo, Guilherme
Matte, Ursula
Giugliani, Roberto
Schwartz, Ida Vanessa D.
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
title Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
title_full Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
title_fullStr Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
title_full_unstemmed Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
title_short Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
title_sort pitfalls in the prenatal diagnosis of mucolipidosis ii alpha/beta: a case report
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287872/
https://www.ncbi.nlm.nih.gov/pubmed/25606425
http://dx.doi.org/10.1016/j.mgene.2014.03.003
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