Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil

Detalhes bibliográficos
Autor(a) principal: Santos, Cláudia Maria Carvalho dos
Data de Publicação: 1998
Outros Autores: Correia, Patrícia Santana, Rosa, Antônio Abílio Santa, Vanazzi, Elide, Coelho, Janice Carneiro, Burin, Maira G., Giugliani, Roberto, Fensom, Anthony H., Oliveira, Cesário Paulo Honório de, Oliveira, Maria Lúcia Costa de, Llerena Junior, Juan Clinton
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/6328
Resumo: Apresentamos o primeiro caso de galactosialidose do tipo infantil precoce identificado entre a população brasileira, uma grave e rara doença de depósito lisossomal, com apenas 12 casos claramente descritos mundialmente. Estudos clínicos, patológicos e bioquímicos realizados foram consistentes com os dados já publicados na literatura científica. Detectamos a doença em uma menina de 7 meses de idade, com diagnóstico de ascite no período pré-natal e evolução compatível com doença de depósito, através da cromatografia em camada fina para oligossacarídeos, que é parte integrante do programa de triagem para erros inatos do metabolismo (EIM) em crianças de alto risco, realizado no Estado do Rio de Janeiro.
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spelling Santos, Cláudia Maria Carvalho dosCorreia, Patrícia SantanaRosa, Antônio Abílio SantaVanazzi, ElideCoelho, Janice CarneiroBurin, Maira G.Giugliani, RobertoFensom, Anthony H.Oliveira, Cesário Paulo Honório deOliveira, Maria Lúcia Costa deLlerena Junior, Juan Clinton2013-02-22T17:00:26Z2013-02-22T17:00:26Z1998SANTOS, Cláudia Maria Carvalho dos et al. Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil. Genet. mol. biol., Ribeirão Preto, v. 21, n. 4, dec. 1998.https://www.arca.fiocruz.br/handle/icict/632810.1590/S1415-47571998000400005Apresentamos o primeiro caso de galactosialidose do tipo infantil precoce identificado entre a população brasileira, uma grave e rara doença de depósito lisossomal, com apenas 12 casos claramente descritos mundialmente. Estudos clínicos, patológicos e bioquímicos realizados foram consistentes com os dados já publicados na literatura científica. Detectamos a doença em uma menina de 7 meses de idade, com diagnóstico de ascite no período pré-natal e evolução compatível com doença de depósito, através da cromatografia em camada fina para oligossacarídeos, que é parte integrante do programa de triagem para erros inatos do metabolismo (EIM) em crianças de alto risco, realizado no Estado do Rio de Janeiro.We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features were consistent with previously published findings. We detected the disorder in a 7- month-old female baby with prenatal diagnosis of ascites. Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC) for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM) in high-risk children, carried out in Rio de Janeiro.FAPERJ-FIOCRUZFundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, BrasilFundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, BrasilFundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, BrasilFundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, BrasilUniversidade Federal do Rio Grande do Sul. Hospital das Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, BrasilUniversidade Federal do Rio Grande do Sul. Hospital das Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, BrasilUniversidade Federal do Rio Grande do Sul. Hospital das Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, BrasilGuy's Hospital. Paediatric Research Unit. London, UKUniversidade Federal do Rio Grande do Sul. Hospital das Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, BrasilUniversidade Federal do Rio Grande do Sul. Hospital das Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, BrasilFundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, BrasilengSociedade Brasileira de GenéticaBuist, N.M.R. (1968). Set of simple side-room urine tests for detection of inborn errors of metabolism. Brit. Med. J. 2: 745-749.D'Azzo, A., Hoogeveen, A., Reuser, A.J.J., Robinson, D. and Galjaard, H. (1982). Molecular defect in combined -galactosidase and neuraminidase deficiency in man. Proc. Natl. Acad. Sci. USA 79: 4535-4539.D'Azzo, A., Andria, G., Strisciuglio, P. and Galjaard, H. (1995). Galactosialidosis. In: The Metabolic Basis of Inherited Disease (Scriver, R.C., Beaudet, L.R., Sly, W.S. and Valle D., eds). 7th edn. McGraw-Hill, Inc., New York, pp. 2825-2838.Dubois, M., Gilles, A.K., Hamilton, J.K., Rebers, P.A. and Smith, F. (1956). A colorimetric method for determination of reducing sugars and related substances. Anal. Chem. 28: 351-353.Galjaard, H., Willemsen, R., Hogeveen, A.T., Mancini, G.M.S., Palmieri, S., Verheijen, F.W. and D'Azzo, A.(1987). Molecular heterogeneity in human - galactosidase and neuraminidase deficiency. Enzyme 38: 132-143.Humbel, R. and Collart, M. (1975). Oligosaccharides in urine of patients with glycoprotein storage diseases: I. Rapid detection by thin-layer chromatography. Clin. Chim. Acta 60: 143-145.McKusick, V.A. (1994). Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. 11th edn. Johns Hopkins University Press, Baltimore.O'Brien, J.S. and Warner, T.G. (1980). Sialidosis: delineation of subtypes by neuraminidase assay. Clin. Genet.17: 35-38.Oliveira, C.P.H. (1991). Caracterização de aminoacidemias e aminoacidúrias por método cromatográfico. Doctoral thesis, Universidade Federal do Rio de Janeiro, RJ, Brasil.Perry, T.L., Hansen, S. and MacDougall, L. (1966). Urinary screening tests in prevention of mental deficiency.Can. Med. Assoc. J. 95: 89-95.Santos, C.M.R.C. (1995). Caracterização de doenças lisossômicas de depósito com acúmulo e excreção de oligossacarídios. Master's thesis, Universidade Federal do Rio de Janeiro, RJ, Brasil.Skoza, L. and Mohos, S. (1976). Stable thiobarbituric acid chromophore with dimethyl sulphoxide. Application to sialic acid assay in analytical de-Oacetylation. Biochem. J. 159: 457-462.Suzuki, Y. (1977). Globoid cell leukodistrophy (Krabbe disease and gangliosidosis). In: Pratical Enzymology of the Sphingolipidoses (Glew, R.H. and Peters, S.P., eds.). Alan R. Liss, New York.Suzuki, Y., Nakamura, N., Shimada, Y., Yotsumoto, H., Endo, H. and Nagashima, K. (1977). Macular cherry-red spots and -galactosidase deficency in an adult patient. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver. Arch Neurol. 34: 157-161.Wannmacher, C.M.D., Wajner, M., Buchhalter, M.S., Dutra Filho, C.S., Pellini, V.B., Pedroso, D.L., Branco, F.S., Goldani, M.Z. and Bolner, A.R. (1987). Detection of inborn errors of metabolism in unselected patients from pediatric intensive care units in Porto Alegre, Brazil: evaluation of screening techniques. Braz. J. Med. Biol. Res. 20: 11-12.Yamano, T., Dezawa, T., Koike, M., Okada, S., Shimada, M., Sugino, H. and Yabuuchi, H. (1985). Ultrastructural study on a severe infantile sialidosis (- galactosidase--neuraminidase deficiency).Neuropediatrics 16: 109-112.Zhou, X.Y., van der Spoel, A., Rottier, R., Hale, G., Willemsen, R., Berry, G.T., Strisciuglio, P., Andria, G.and D'Azzo, A. (1996). Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. Hum. Mol. 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dc.title.pt_BR.fl_str_mv Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
title Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
spellingShingle Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
Santos, Cláudia Maria Carvalho dos
Galactosidases
Doenças por Armazenamento dos Lisossomos
title_short Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
title_full Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
title_fullStr Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
title_full_unstemmed Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
title_sort Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
author Santos, Cláudia Maria Carvalho dos
author_facet Santos, Cláudia Maria Carvalho dos
Correia, Patrícia Santana
Rosa, Antônio Abílio Santa
Vanazzi, Elide
Coelho, Janice Carneiro
Burin, Maira G.
Giugliani, Roberto
Fensom, Anthony H.
Oliveira, Cesário Paulo Honório de
Oliveira, Maria Lúcia Costa de
Llerena Junior, Juan Clinton
author_role author
author2 Correia, Patrícia Santana
Rosa, Antônio Abílio Santa
Vanazzi, Elide
Coelho, Janice Carneiro
Burin, Maira G.
Giugliani, Roberto
Fensom, Anthony H.
Oliveira, Cesário Paulo Honório de
Oliveira, Maria Lúcia Costa de
Llerena Junior, Juan Clinton
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Santos, Cláudia Maria Carvalho dos
Correia, Patrícia Santana
Rosa, Antônio Abílio Santa
Vanazzi, Elide
Coelho, Janice Carneiro
Burin, Maira G.
Giugliani, Roberto
Fensom, Anthony H.
Oliveira, Cesário Paulo Honório de
Oliveira, Maria Lúcia Costa de
Llerena Junior, Juan Clinton
dc.subject.decs.pt_BR.fl_str_mv Galactosidases
Doenças por Armazenamento dos Lisossomos
topic Galactosidases
Doenças por Armazenamento dos Lisossomos
description Apresentamos o primeiro caso de galactosialidose do tipo infantil precoce identificado entre a população brasileira, uma grave e rara doença de depósito lisossomal, com apenas 12 casos claramente descritos mundialmente. Estudos clínicos, patológicos e bioquímicos realizados foram consistentes com os dados já publicados na literatura científica. Detectamos a doença em uma menina de 7 meses de idade, com diagnóstico de ascite no período pré-natal e evolução compatível com doença de depósito, através da cromatografia em camada fina para oligossacarídeos, que é parte integrante do programa de triagem para erros inatos do metabolismo (EIM) em crianças de alto risco, realizado no Estado do Rio de Janeiro.
publishDate 1998
dc.date.issued.fl_str_mv 1998
dc.date.accessioned.fl_str_mv 2013-02-22T17:00:26Z
dc.date.available.fl_str_mv 2013-02-22T17:00:26Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv SANTOS, Cláudia Maria Carvalho dos et al. Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil. Genet. mol. biol., Ribeirão Preto, v. 21, n. 4, dec. 1998.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/6328
dc.identifier.doi.none.fl_str_mv 10.1590/S1415-47571998000400005
identifier_str_mv SANTOS, Cláudia Maria Carvalho dos et al. Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil. Genet. mol. biol., Ribeirão Preto, v. 21, n. 4, dec. 1998.
10.1590/S1415-47571998000400005
url https://www.arca.fiocruz.br/handle/icict/6328
dc.language.iso.fl_str_mv eng
language eng
dc.relation.isbasedon.pt_BR.fl_str_mv Buist, N.M.R. (1968). Set of simple side-room urine tests for detection of inborn errors of metabolism. Brit. Med. J. 2: 745-749.
D'Azzo, A., Hoogeveen, A., Reuser, A.J.J., Robinson, D. and Galjaard, H. (1982). Molecular defect in combined -galactosidase and neuraminidase deficiency in man. Proc. Natl. Acad. Sci. USA 79: 4535-4539.
D'Azzo, A., Andria, G., Strisciuglio, P. and Galjaard, H. (1995). Galactosialidosis. In: The Metabolic Basis of Inherited Disease (Scriver, R.C., Beaudet, L.R., Sly, W.S. and Valle D., eds). 7th edn. McGraw-Hill, Inc., New York, pp. 2825-2838.
Dubois, M., Gilles, A.K., Hamilton, J.K., Rebers, P.A. and Smith, F. (1956). A colorimetric method for determination of reducing sugars and related substances. Anal. Chem. 28: 351-353.
Galjaard, H., Willemsen, R., Hogeveen, A.T., Mancini, G.M.S., Palmieri, S., Verheijen, F.W. and D'Azzo, A.(1987). Molecular heterogeneity in human - galactosidase and neuraminidase deficiency. Enzyme 38: 132-143.
Humbel, R. and Collart, M. (1975). Oligosaccharides in urine of patients with glycoprotein storage diseases: I. Rapid detection by thin-layer chromatography. Clin. Chim. Acta 60: 143-145.
McKusick, V.A. (1994). Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. 11th edn. Johns Hopkins University Press, Baltimore.
O'Brien, J.S. and Warner, T.G. (1980). Sialidosis: delineation of subtypes by neuraminidase assay. Clin. Genet.17: 35-38.
Oliveira, C.P.H. (1991). Caracterização de aminoacidemias e aminoacidúrias por método cromatográfico. Doctoral thesis, Universidade Federal do Rio de Janeiro, RJ, Brasil.
Perry, T.L., Hansen, S. and MacDougall, L. (1966). Urinary screening tests in prevention of mental deficiency.Can. Med. Assoc. J. 95: 89-95.
Santos, C.M.R.C. (1995). Caracterização de doenças lisossômicas de depósito com acúmulo e excreção de oligossacarídios. Master's thesis, Universidade Federal do Rio de Janeiro, RJ, Brasil.
Skoza, L. and Mohos, S. (1976). Stable thiobarbituric acid chromophore with dimethyl sulphoxide. Application to sialic acid assay in analytical de-Oacetylation. Biochem. J. 159: 457-462.
Suzuki, Y. (1977). Globoid cell leukodistrophy (Krabbe disease and gangliosidosis). In: Pratical Enzymology of the Sphingolipidoses (Glew, R.H. and Peters, S.P., eds.). Alan R. Liss, New York.
Suzuki, Y., Nakamura, N., Shimada, Y., Yotsumoto, H., Endo, H. and Nagashima, K. (1977). Macular cherry-red spots and -galactosidase deficency in an adult patient. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver. Arch Neurol. 34: 157-161.
Wannmacher, C.M.D., Wajner, M., Buchhalter, M.S., Dutra Filho, C.S., Pellini, V.B., Pedroso, D.L., Branco, F.S., Goldani, M.Z. and Bolner, A.R. (1987). Detection of inborn errors of metabolism in unselected patients from pediatric intensive care units in Porto Alegre, Brazil: evaluation of screening techniques. Braz. J. Med. Biol. Res. 20: 11-12.
Yamano, T., Dezawa, T., Koike, M., Okada, S., Shimada, M., Sugino, H. and Yabuuchi, H. (1985). Ultrastructural study on a severe infantile sialidosis (- galactosidase--neuraminidase deficiency).Neuropediatrics 16: 109-112.
Zhou, X.Y., van der Spoel, A., Rottier, R., Hale, G., Willemsen, R., Berry, G.T., Strisciuglio, P., Andria, G.and D'Azzo, A. (1996). Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. Hum. Mol. Genet. 5: 1977-1987.
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
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