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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Detalles Bibliográficos
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
Descripción
Sumario: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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