Pub Date : 2021-01-01DOI: 10.1590/2326-4594-JIEMS-2020-0020
Nerina Martinez, J. Rosales, N. Medina, Josefina Pérez-Maturo, V. Salinas, L. Zavala, P. Vega, S. Rodríguez-Quiroga, D. Morón, M. Kauffman
{"title":"Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort","authors":"Nerina Martinez, J. Rosales, N. Medina, Josefina Pérez-Maturo, V. Salinas, L. Zavala, P. Vega, S. Rodríguez-Quiroga, D. Morón, M. Kauffman","doi":"10.1590/2326-4594-JIEMS-2020-0020","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2020-0020","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"20 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76498128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1590/2326-4594-jiems-2020-0016
Juan Pozo-Palacios, Génesis García-Díaz, F. Cruz, Fabián Porras, Jessica Heras, Eder Cano-Pérez
{"title":"Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador","authors":"Juan Pozo-Palacios, Génesis García-Díaz, F. Cruz, Fabián Porras, Jessica Heras, Eder Cano-Pérez","doi":"10.1590/2326-4594-jiems-2020-0016","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2020-0016","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"41 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86213267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1590/2326-4594-JIEMS-2020-0008
P. Swetha, I. Panigrahi, A. Saxena, A. Kaur, Rozy Thakur
Thakur 1 Abstract The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias. Early diagnosis and treatment can greatly improve the quality of life in these children. In this study we studied 46 MPS patients diagnosed on enzyme and/or DNA testing and we found that the MPS II was the most common type followed by MPS I and MPS IVA. While the mean age of onset of symptoms was 12 months, the mean age at diagnosis was 4.5 years, a significant delay. One of major presenting features was recurrent respiratory problems, more prevalent in MPS II cases. Many patients also had short stature and contractures. Increasing awareness among physicians is of paramount importance for the early diagnosis and optimal treatment and prevention by prenatal testing
{"title":"Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic","authors":"P. Swetha, I. Panigrahi, A. Saxena, A. Kaur, Rozy Thakur","doi":"10.1590/2326-4594-JIEMS-2020-0008","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2020-0008","url":null,"abstract":"Thakur 1 Abstract The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias. Early diagnosis and treatment can greatly improve the quality of life in these children. In this study we studied 46 MPS patients diagnosed on enzyme and/or DNA testing and we found that the MPS II was the most common type followed by MPS I and MPS IVA. While the mean age of onset of symptoms was 12 months, the mean age at diagnosis was 4.5 years, a significant delay. One of major presenting features was recurrent respiratory problems, more prevalent in MPS II cases. Many patients also had short stature and contractures. Increasing awareness among physicians is of paramount importance for the early diagnosis and optimal treatment and prevention by prenatal testing","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86284369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1590/2326-4594-JIEMS-2020-0015
G. Rukavishnikov, E. Kasyanov, T. Zhilyaeva, N. Neznanov, G. Mazo
Recent biological and genetic research data confirm shared pathological mechanisms of inherited metabolic diseases and mental disorders. We suggest that for further research a model of synergistic heterozygosity can become a convenient tool. In that case the use of inherited metabolic disorders as a multisystem research model can provide both significant theoretical and practical results. At the initial stage of this hypothesis evaluation, it seems efficient to screen for mental symptoms the families of patients with inherited metabolic disorders.
{"title":"Inherited Metabolic Diseases as a Multisystem Model of Mental Disorders Research","authors":"G. Rukavishnikov, E. Kasyanov, T. Zhilyaeva, N. Neznanov, G. Mazo","doi":"10.1590/2326-4594-JIEMS-2020-0015","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2020-0015","url":null,"abstract":"Recent biological and genetic research data confirm shared pathological mechanisms of inherited metabolic diseases and mental disorders. We suggest that for further research a model of synergistic heterozygosity can become a convenient tool. In that case the use of inherited metabolic disorders as a multisystem research model can provide both significant theoretical and practical results. At the initial stage of this hypothesis evaluation, it seems efficient to screen for mental symptoms the families of patients with inherited metabolic disorders.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"11 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76576943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1590/2326-4594-JIEMS-2020-0013
Jane Estrella, V. Wiley, J. Immanuel, D. Simmons
{"title":"Differences in Newborn Screening Results Among Women with Gestational Diabetes Mellitus","authors":"Jane Estrella, V. Wiley, J. Immanuel, D. Simmons","doi":"10.1590/2326-4594-JIEMS-2020-0013","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2020-0013","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"497 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77074472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01DOI: 10.1590/2326-4594-jiems-2021-0023
G. Queiruga, G. Borrajo, V. Cornejo
{"title":"Editorial Letter to the Special Issue on Newborn Screening in Latin America (Commemorating the Silver Jubilee of the Latin American Society for Inborn Errors of Metabolism and Neonatal Screening - SLEIMPN)","authors":"G. Queiruga, G. Borrajo, V. Cornejo","doi":"10.1590/2326-4594-jiems-2021-0023","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0023","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73633066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.1590/2326-4594-jiems-2019-0010
A. M. Fleming, C. T. Ribeiro, D. Horovitz, Luciana Castaneda Ribeiro, Ana Paula Carvalho Corrêa
Introduction: Rare health conditions as mucopolysaccharidoses (MPS) can directly influence functioning experiences. Mobility restriction, osteoarticular alterations, leads to delayed neuropsychomotor development are some of the negative impacts of MPS. Aims: The purpose of this study is to evaluate the functioning of children with MPS, from the International Classification of Functioning, Disability, and Health (ICF) perspective. Methodology: It is a case series study with a sample of 15 children and adolescents with MPS with a median age of 12 years, followed in a tertiary hospital in Rio de Janeiro, Brazil. Results: The patients were assessed by the model ICF and results were as following: regarding body functions, most categories presented slight impairment. For mobility of joints and gait, the impairment was severe. Activity and participation with most significant limitations were “learning to read/write”, “read/write”, “listening” and “performing multiple tasks.” In self-care, the main limitations were in “drinking”, “taking care of body parts” and “taking care of one’s health.” Also, there were restrictions on “doing household tasks”, “basic economic transactions”, “community living” and “religion and spirituality”. Conclusion: MPS can have a significant impact in different body systems which act as limiting activities that require body mobility.
{"title":"Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series","authors":"A. M. Fleming, C. T. Ribeiro, D. Horovitz, Luciana Castaneda Ribeiro, Ana Paula Carvalho Corrêa","doi":"10.1590/2326-4594-jiems-2019-0010","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2019-0010","url":null,"abstract":"Introduction: Rare health conditions as mucopolysaccharidoses (MPS) can directly influence functioning experiences. Mobility restriction, osteoarticular alterations, leads to delayed neuropsychomotor development are some of the negative impacts of MPS. Aims: The purpose of this study is to evaluate the functioning of children with MPS, from the International Classification of Functioning, Disability, and Health (ICF) perspective. Methodology: It is a case series study with a sample of 15 children and adolescents with MPS with a median age of 12 years, followed in a tertiary hospital in Rio de Janeiro, Brazil. Results: The patients were assessed by the model ICF and results were as following: regarding body functions, most categories presented slight impairment. For mobility of joints and gait, the impairment was severe. Activity and participation with most significant limitations were “learning to read/write”, “read/write”, “listening” and “performing multiple tasks.” In self-care, the main limitations were in “drinking”, “taking care of body parts” and “taking care of one’s health.” Also, there were restrictions on “doing household tasks”, “basic economic transactions”, “community living” and “religion and spirituality”. Conclusion: MPS can have a significant impact in different body systems which act as limiting activities that require body mobility.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"135 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86294589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.1590/2326-4594-jiems-2020-0003
C. Souza, A. C. Siqueira, Natália S. Antunes, D. Horovitz, J. Politei, C. Lourenço, M. J. R. Doriqui, Débora Lima Souza, M. Galera, Leonardo Cury Abrahão, M. Matos, P. Mendes, T. Magalhães
Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non-classical forms. As orthopedists and surgeons are the specialists most frequently consulted before the diagnosis, it is critical that MPS may be considered as a differential diagnosis for patients with bone dysplasia. Experts in Latin America reviewed medical records focusing on disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA patients. All patients displayed orthopedic issues, which worsened over time, followed by cardiac and ophthalmological abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible diagnosis for patients who report osteoarticular abnormalities in absence of inflammation.
{"title":"Perthes-Like Disease Masquerading Non-Classical MPS","authors":"C. Souza, A. C. Siqueira, Natália S. Antunes, D. Horovitz, J. Politei, C. Lourenço, M. J. R. Doriqui, Débora Lima Souza, M. Galera, Leonardo Cury Abrahão, M. Matos, P. Mendes, T. Magalhães","doi":"10.1590/2326-4594-jiems-2020-0003","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2020-0003","url":null,"abstract":"Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non-classical forms. As orthopedists and surgeons are the specialists most frequently consulted before the diagnosis, it is critical that MPS may be considered as a differential diagnosis for patients with bone dysplasia. Experts in Latin America reviewed medical records focusing on disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA patients. All patients displayed orthopedic issues, which worsened over time, followed by cardiac and ophthalmological abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible diagnosis for patients who report osteoarticular abnormalities in absence of inflammation.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"38 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91316408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.1590/2326-4594-jiems-2020-08-01
H. Ida
This article is distributed under the terms of the Creative Commons Attribution 4.0 License (http://www.creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SciELO and Open Access pages (http://www.scielo.br/jiems/). Journal of Inborn Errors of Metabolism & Screening 2020, Volume 8: e20200101 DOI: 10.1590/2326-4594-JIEMS-2020-08-01
{"title":"Obituary: Toshiyuki Fukao (1961-2020), a friend of the Latin American IEM community","authors":"H. Ida","doi":"10.1590/2326-4594-jiems-2020-08-01","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2020-08-01","url":null,"abstract":"This article is distributed under the terms of the Creative Commons Attribution 4.0 License (http://www.creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SciELO and Open Access pages (http://www.scielo.br/jiems/). Journal of Inborn Errors of Metabolism & Screening 2020, Volume 8: e20200101 DOI: 10.1590/2326-4594-JIEMS-2020-08-01","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"41 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86821642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.1590/2326-4594-jiems-2020-0005
G. Baldini, José Fernando Palmejiani, J. B. Sant'Anna, Z. Carneiro, R. Giugliani, C. Pereira, C. Cozma, C. O’Neill, C. Lourenço
Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. The four types of MPS III are recognized in accordance with the deficient enzyme, resulting in the accumulation of heparan sulfate with particularly deleterious effects in the central nervous system. The incidence of MPS III remains to be established in Latin American countries. We describe the journey of a patient with MPS IIIB whom, even in the presence of speech delay and deterioration, behavioral problems and motor incoordination, showed unaltered urinary glycosaminoglycans (GAGs) levels. An investigation for MPS was undertaken and enzyme analysis indicated a deficiency of alpha-N-acetylglucosaminidase, leading to the diagnosis of MPS IIIB. With the correct diagnosis, the patient’s symptoms could be properly managed, and the parents received appropriate genetic counseling. The present case report reinforces the need of investigating MPS III in patients with language delay and/or regression, neurological impairment and behavioral alterations, even when urinary GAGs are within normal range. A definitive diagnosis ends the diagnostic journey and enables the medical team and family to provide a better care for the child.
{"title":"Sanfilippo Syndrome: The Tale of a Challenging Diagnosis","authors":"G. Baldini, José Fernando Palmejiani, J. B. Sant'Anna, Z. Carneiro, R. Giugliani, C. Pereira, C. Cozma, C. O’Neill, C. Lourenço","doi":"10.1590/2326-4594-jiems-2020-0005","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2020-0005","url":null,"abstract":"Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. The four types of MPS III are recognized in accordance with the deficient enzyme, resulting in the accumulation of heparan sulfate with particularly deleterious effects in the central nervous system. The incidence of MPS III remains to be established in Latin American countries. We describe the journey of a patient with MPS IIIB whom, even in the presence of speech delay and deterioration, behavioral problems and motor incoordination, showed unaltered urinary glycosaminoglycans (GAGs) levels. An investigation for MPS was undertaken and enzyme analysis indicated a deficiency of alpha-N-acetylglucosaminidase, leading to the diagnosis of MPS IIIB. With the correct diagnosis, the patient’s symptoms could be properly managed, and the parents received appropriate genetic counseling. The present case report reinforces the need of investigating MPS III in patients with language delay and/or regression, neurological impairment and behavioral alterations, even when urinary GAGs are within normal range. A definitive diagnosis ends the diagnostic journey and enables the medical team and family to provide a better care for the child.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"97 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83888475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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