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COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
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Sebastião, Fernanda Medeiros

; Michelin-Tirelli, Kristiane

; Bender, Fernanda

; Lopes, Franciele Fátima

; Moraes, Inamara

; Kubaski, Francyne

; Giugliani, Roberto

; Burin, Maira

Genetics and Molecular Biology

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2022, Volume 45 Nº 1 elocation e20210253

Resumo: En | Texto: En | PDF: En

Abstract The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes that code for enzymes, cofactors, or structural proteins affecting different metabolic pathways. The aim of this study was to evaluate how COVID-19 affected the diagnosis of patients with IEM during the first year of the pandemic in Brazil comparing two distinct periods: from March 1st, 2019 to February 29th, 2020 (TIME A) and from March 1st, 2020 to February 28th, 2021 (TIME B), by the analysis of the number of tests and diagnoses performed in a Reference Center in South of Brazil. In the comparison TIME A with TIME B, we observe a reduction in the total number of tests performed (46%) and in the number of diagnoses (34%). In both periods analyzed, mucopolysaccharidoses (all subtypes combined) was the most frequent LD suspected and/or confirmed. Our data indicates a large reduction in the number of tests requested for the investigation of IEM and consequently a large reduction in the number of diagnoses caused by the COVID-19 pandemic leading to a significant underdiagnosis of IEM.

https://doi.org/10.1590/1678-4685-gmb-2021-0253 1 downloads

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
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Josahkian, Juliana Alves

; Trapp, Franciele Barbosa

; Burin, Maira Graeff

; Michelin-Tirelli, Kristiane

; Magalhães, Ana Paula Pereira Scholz de

; Sebastião, Fernanda Medeiros

; Bender, Fernanda

; Mari, Jurema Fátima De

; Brusius-Facchin, Ana Carolina

; Leistner-Segal, Sandra

; Málaga, Diana Rojas

; Giugliani, Roberto

Genetics and Molecular Biology

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2021, Volume 44 Nº 1 elocation e20200138

Resumo: En | Texto: En | PDF: En

Abstract The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may be underestimated. To determine the epidemiological profile of MPS in each Brazilian region, we analyzed data collected between 1982 and 2019 by a national reference laboratory and identified 1,652 patients. Using data between 1994 and 2018, the birth prevalence (by 100,000 live births) for MPS was 1.57. MPS II was the most common type of MPS in Brazil, and its birth prevalence was 0.48 (0.94 considering only male births). Regarding the number of cases per region, MPS II was the most frequent in the North and Center-West (followed by MPS VI), and also in the Southeast (followed by MPS I); MPS I and MPS II were the most common types in the South; and MPS VI was the most common in the Northeast (followed by MPS II). The differences observed in the relative frequencies of MPS types across Brazilian regions are likely linked to founder effect, endogamy, and consanguinity, but other factors may be present and need further investigation.

https://doi.org/10.1590/1678-4685-gmb-2020-0138 934 downloads

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center,
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Magalhães, Ana Paula Pereira Scholz de

; Burin, Maira Graeff

; Souza, Carolina Fischinger Moura de

; de Bitencourt, Fernanda Hendges

; Sebastião, Fernanda Medeiros

; Silva, Thiago Oliveira

; Vairo, Filippo Pinto e

; Schwartz, Ida Vanessa Doederlein

Jornal de Pediatria

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Dez 2020, Volume 96 Nº 6 Páginas 710 - 716

Resumo: En Pt | Texto: En Pt | PDF: En | PDF: Pt

Abstract Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 months, 25–75 IQR = 10–108; males = 810) submitted to the TfIEF test during the period were reviewed. Results: Fifty-one individuals (3%) had an altered TfIEF pattern (5 ± 2.8 cases/year; median age = 24 months, 25–75 IQR = 11–57 months; males = 27, 53%). For 14 of them, data on diagnosis conclusion were available (classic galactosemia = 4; hereditary fructose intolerance = 4; peroxisomal diseases = 2; PMM2-CDG = 2; MPDU1-CDG = 1; SLC35A2-CDG = 1).Comparing the cases with the normal and altered TfIEF patterns, there was a higher prevalence of altered cases in the age group from 11 months to 3 years. There was an increase in the likelihood of change in TfIEF, especially in the presence of inverted nipples or liver disease. Conclusions: The data suggest that the investigation of a case with suspected CDG is a complex problem, being aggravated by the existence of other IEMs (inborn errors of metabolism) associated with altered TfIEF pattern and lack of access to confirmatory tests. The presence of inverted nipples and liver disease, especially in individuals aged 11 months to 3 years, should suggest the need for TfIEF investigation.

Resumo Objetivos: Caracterizar os casos com suspeita de CDG investigados em laboratório do sul do Brasil pelo exame de IEFTF de 2008 a 2017. Metodologia: Estudo observacional, transversal, retrospectivo. Foram revisadas as fichas laboratoriais de 1.546 indivíduos (mediana de idade = 36 meses, IQ 25-75 = 10-108; sexo masculino = 810) que fizeram o exame de IEFTF no período. Resultados: Cinquenta e um indivíduos (3%) apresentaram padrão alterado na IEFTF (5 ± 2,8 casos/ano; mediana de idade = 24 meses, IQ 25-75 = 11-57 meses; sexo masculino = 27, 53%). Para 14 deles, estavam disponíveis dados sobre a conclusão do diagnóstico (galactosemia clássica = 4; intolerância hereditária à frutose = 4; doenças peroxissomais = 2; PMM2-CDG = 2; MPDU1-CDG = 1; SLC35A2-CDG = 1). Comparando os casos com padrão normal e alterado na IEFTF, houve maior prevalência de casos alterados na faixa etária de 11 meses a 3 anos. Verificou-se um aumento na probabilidade de alteração na IEFTF principalmente na presença de mamilos invertidos ou de hepatopatia. Conclusões: Os nossos dados sugerem que a investigação de um caso com suspeita de CDG é complexa, é agravada pela existência de outros EIM associados a padrão alterado na IEFTF e pela falta de acesso a exames confirmatórios. A presença principalmente de mamilos invertidos e de hepatopatia em indivíduos na faixa etária de 11 meses a 3 anos deve sugerir a necessidade de investigação por IEFTF.

https://doi.org/10.1016/j.jped.2019.05.008

Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods
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Sebastião, Fernanda Medeiros

; Burin, Maira Graeff

; Civallero, Gabriel

; Tirelli, Kristiane Michelin

; Sitta, Angela

; Coelho, Daniella de Moura

; Vargas, Carmen Regla

; Wajner, Moacir

; Giugliani, Roberto

; Bitencourt, Fernanda Hendges de

; Schwartz, Ida Vanessa Doederlein

Journal of Inborn Errors of Metabolism and Screening

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2020, Volume 8 elocation e20190011

Resumo: En | Texto: En | PDF: En

Abstract Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma using high-performance liquid chromatography (HPLC) or in dried blood spots (DBS) using different techniques to adjust treatment strategy. The objective of this study was to evaluate Phe levels in DBS measured by two different methods and compare them with Phe levels measured in plasma by HPLC. We analyzed 89 blood samples from 47 PKU patients by two different methods: fluorometric method developed in-house (method A) and the commercially available PerkinElmer® Neonatal Phenylalanine Kit (method B) and in plasma by HPLC. The mean Phe levels by method A, method B, and HPLC were 430.4±39.9μmol/L, 439.3±35.4μmol/L, and 442.2±41.6μmol/L, respectively. The correlation values between HPLC and methods A and B were 0.990 and 0.974, respectively (p < 0.001 for both). Our data suggest that methods A and B are useful alternatives for monitoring Phe levels in patients with PKU, with method A being in closer agreement with the reference standard (HPLC).

https://doi.org/10.1590/2326-4594-jiems-2019-0011 1087 downloads

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
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Bender, Fernanda

; Burin, Maira G.

; Tirelli, Kristiane M.

; Medeiros, Fernanda

; Bitencourt, Fernanda Hendges de

; Civallero, Gabriel

; Kubaski, Francyne

; Bravo, Heydy

; Daher, Antoine

; Carnier, Vanessa

; Franco, José F. S.

; Giugliani, Roberto

Genetics and Molecular Biology

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2020, Volume 43 Nº 2 elocation e20180334

Resumo: En | Texto: En | PDF: En

Abstract Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestations, preventing patients to have the benefits of the early treatment. Newborn screening programs are being considered for LSDs to allow early diagnosis and treatment. The present study evaluated the feasibility of a customized screening approach based on modified fluorometric assays with reduced amounts of reagents, substrates and samples for: mucopolysaccharidosis (MPS) type I (MPS I), MPS VI, Fabry, Gaucher, and Pompe diseases. We also evaluated the advantages of including blood chitotriosidase and urinary glycosaminoglycans in the protocol. By the measurement of the specific disease-associated enzymes (plus blood chitotriosidase and urinary glycosaminoglycans) we analyzed 834 de-identified DBS of unselected newborns. No positive case was detected, and the false-positive rates were low. Taking into consideration the limitations of this methodology, we believe that, after defining proper cutoffs, it could be a viable alternative to provide NBS for LSDs by laboratories that may not be able to afford the commercial methods available.

https://doi.org/10.1590/1678-4685-gmb-2018-0334 922 downloads

Population medical genetics: translating science to the community
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Giugliani, Roberto

; Bender, Fernanda

; Couto, Rowena

; Bochernitsan, Aline

; Brusius-Facchin, Ana Carolina

; Burin, Maira

; Amorim, Tatiana

; Acosta, Angelina Xavier

; Purificação, Antônio

; Leistner-Segal, Sandra

; Saraiva-Pereira, Maria Luiza

; Jardim, Laura Bannach

; Matte, Ursula

; Riegel, Mariluce

; Cardoso-dos-Santos, Augusto César

; Rodrigues, Graziella

; Oliveira, Marcelo Zagonel de

; Tagliani-Ribeiro, Alice

; Heck, Selia

; Dresch, Vanusa

; Schuler-Faccini, Lavínia

; Kubaski, Francyne

Genetics and Molecular Biology

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2019, Volume 42 Nº 1 Páginas 312 - 320

Resumo: En | Texto: En | PDF: En

Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as “population medical genetics”, which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National Institute of Population Medical Genetics (INaGeMP) was created in 2008 in Brazil. INaGeMP has developed several tools and funded numerous research activities. In this review, we highlight three successful projects developed in the first 10 years of INaGeMP activities (2008-2018): a newborn screening pilot study for MPS VI in Northeast Brazil, the study of Machado-Joseph disease in Brazilian families with Azorian ancestry, and the high twinning rate in a small town in southern Brazil. The results of these projects in terms of scientific output and contributions to the affected communities highlight the success and importance of INaGeMP.

https://doi.org/10.1590/1678-4685-gmb-2018-0096 971 downloads

Lysosomal diseases: Overview on current diagnosis and treatment
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Poswar, Fabiano de Oliveira

; Vairo, Filippo

; Burin, Maira

; Michelin-Tirelli, Kristiane

; Brusius-Facchin, Ana Carolina

; Kubaski, Francyne

; Souza, Carolina Fischinger Moura de

; Baldo, Guilherme

; Giugliani, Roberto

Genetics and Molecular Biology

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2019, Volume 42 Nº 1 Páginas 165 - 177

Resumo: En | Texto: En | PDF: En

Abstract Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.

https://doi.org/10.1590/1678-4685-gmb-2018-0159 3999 downloads

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
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Vieira, Taiane Alves

; Trapp, Franciele Barbosa

; Souza, Carolina Fischinger Moura de

; Faccini, Lavínia Schuler

; Jardim, Laura Bannach

; Schwartz, Ida Vanessa Doederlein

; Riegel, Mariluce

; Vargas, Carmen Regla

; Burin, Maira Graeff

; Leistner-Segal, Sandra

; Ashton-Prolla, Patrícia

; Giugliani, Roberto

Genetics and Molecular Biology

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2019, Volume 42 Nº 1 Páginas 155 - 164

Resumo: En | Texto: En | PDF: En

Abstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers.

https://doi.org/10.1590/1678-4685-gmb-2018-0214 1176 downloads

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory
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Giugliani, Roberto

; Federhen, Andressa

; Michelin-Tirelli, Kristiane

; Riegel, Mariluce

; Burin, Maira

Genetics and Molecular Biology

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Mar 2017, Volume 40 Nº 1 Páginas 31 - 39

Resumo: En | Texto: En | PDF: En

Abstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, which are only available in a few laboratories around the world. A pioneer facility for the diagnosis of IEM and LSDs was established in the South of Brazil in 1982 and has served as a reference service since then. Over the past 34 years, samples from 72,797 patients were referred for investigation of IEM, and 3,211 were confirmed as having an LSD (4.41%, or 1 in 22), with 3,099 of these patients originating from Brazil. The rate of diagnosis has increased over time, in part due to the creation of diagnostic networks involving a large number of Brazilian services. These cases, referred from Brazilian regions, provide insight about the relative frequency of LSDs in the country. The large amount of data available allows for the estimation of the minimal frequency of specific LSDs in Brazil. The reported data could help to plan health care policies, as there are specific therapies available for most of the cases diagnosed.

https://doi.org/10.1590/1678-4685-gmb-2016-0268 2635 downloads

10.

Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
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Ribas, Graziela Schmitt

; Mari, Jurema Fátima De

; Civallero, Gabriel

; Souza, Heryk Motta de

; Burin, Maira Graeff

; Vargas, Carmen Regla

; Giugliani, Roberto

Journal of Inborn Errors of Metabolism and Screening

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2017, Volume 5 elocation e160048

Resumo: En | Texto: En | PDF: En

Abstract Background: Interest in screening methods for lysosomal storage diseases (LSDs) has increased in recent years, since early diagnosis and treatment are essential to prevent or attenuate the onset of symptoms and the complications of these diseases. In the current work, we evaluated the performance of tandem mass spectrometry (MS/MS) for the detection of some LSDs, aiming the future use of this methodology for the screening of these disorders. Methods: Standard curves and quality control dried blood spots were assayed to evaluate the precision, linearity, and accuracy. A total of 150 controls were grouped according to age and subjected to measurement of lysosomal enzymes deficient in Niemann-Pick A/B, Krabbe, Gaucher, Fabry, Pompe, and Mucopolysaccharidosis type I diseases. Samples from 59 affected patients with a diagnosis of LSDs previously confirmed by fluorimetric methods were analyzed. Results: Data from standard calibration demonstrated good linearity and accuracy and the intra- and interassay precisions varied from 1.17% to 11.60% and 5.39% to 31.24%, respectively. Except for galactocerebrosidase and ?-l-iduronidase, enzyme activities were significantly higher in newborns compared to children and adult controls. Affected patients presented enzymatic activities significantly lower compared to all control participants. Conclusion: Our results show that MS/MS is a promising methodology, suitable for the screening of LSDs, but accurate diagnoses will depend on its correlation with other biochemical and/or molecular analyses.

https://doi.org/10.1177/2326409817692360 451 downloads

11.

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome
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Saute, Jonas Alex Morales

; Souza, Carolina Fischinger Moura de

; Poswar, Fabiano de Oliveira

; Donis, Karina Carvalho

; Campos, Lillian Gonçalves

; Deyl, Adriana Vanessa Santini

; Burin, Maira Graeff

; Vargas, Carmen Regla

; Matte, Ursula da Silveira

; Giugliani, Roberto

; Saraiva-Pereira, Maria Luiza

; Vedolin, Leonardo Modesti

; Gregianin, Lauro José

; Jardim, Laura Bannach

Arquivos de Neuro-Psiquiatria

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Dez 2016, Volume 74 Nº 12 Páginas 953 - 966

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

RESUMO O transplante de células tronco hematopoiéticas (TCTH) é o único tratamento disponível para o envolvimento neurológico de doenças como a leucodistrofia metacromática (MLD), a mucopolissacaridose tipo I-Hurler (MPS-IH) e a adrenoleucodistrofia (CALD). Objetivos Descrever a sobrevida e os desfechos neurológicos após o TCTH nessas doenças. Métodos Sete pacientes CALD, 2 MLD e 2 MPS-IH realizaram TCTH entre 2007 e 2014. Avaliações neurológicas, ressonância nuclear magnética e estudos bioquímicos e moleculares foram feitos no baseline e repetidos quando apropriado. Resultados Desfechos favoráveis foram obtidos em 4/5 TCTH de doadores relacionados e em 3/6 não relacionados. Dois pacientes faleceram de complicações do procedimento. Nove transplantados sobreviveram após uma mediana de 3,7 anos: estabilização neurológica foi obtida em 5/6 CALD, ½ MLD e em um caso MPS-IH. As lesões encefálicas de um caso MPS-IH reduziram-se quatro anos após o TCTH. Conclusão Bons desfechos foram obtidos quando o TCTH foi feito antes da vida adulta, cedo no curso clínico e/ou a partir de um doador relacionado.

ABSTRACT Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.

https://doi.org/10.1590/0004-282x20160155 4791 downloads

12.

Valores de referencia de β-glucosidasa y quitotriosidasa en gotas de sangre seca de lactantes venezolanos
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Miranda, Luís E

; Chacín, José A

; Chávez, Carlos J

; Méndez, Karile

; Bracho, Ana

; Solís Añez, Ernesto

; Bender, Fernanda

; Graeft Burin, Maira

; Giugliani, Roberto

Archivos Venezolanos de Puericultura y Pediatría

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Dez 2016, Volume 79 Nº 4 Páginas 127 - 131

Resumo: Es En | Texto: Es En | PDF: Es | PDF: En

La enfermedad de Gaucher es un trastorno de herencia autosómica recesiva y la enfermedad de depósito lisosomal más frecuente causada por deficiencia de la actividad enzimática de la β-Glucosidasa. Objetivo: establecer valores de referencia de actividad enzimática lisosomal de β-glucosidasa y quitotriosidasa en lactantes en población Venezolana. Método: Se realizó un estudio prospectivo y transversal en 98 lactantes sanos con edades comprendidas entre 1 mes y 24 meses, de ambos sexos (48 femeninos y 50 masculinos). La actividad enzimática de β-glucosidasa y quitotriosidasa fue determinada en gotas de sangre seca (siglas en inglés, DBS) siguiendo el protocolo propuesto por Chamoles y col. El análisis estadístico de los datos se realizó con el programa estadístico SPSS Statistics 17.0 para Windows. Resultados: El rango de actividad enzimática para la β-Glucosidasa obtenido en esta investigación fue 2,3 - 12 nmol/ml/h, con una media de 6,7 ± 2,5 y para la Quitotriosidasa 0 - 44,2 nmol/ml/h con una media de 18,4 ± 10,4 nmol/ml/h, utilizando discos de papel de filtro de 3mm de diámetro con sangre seca (aproximadamente 3,6 μl de sangre). Conclusión: Los valores de referencia de actividad enzimática lisosomal en DBS para β-glucosidasa y quitotriosidasa son establecidos por vez primera en lactantes sanos venezolanos; no obstante, estos resultados difieren con los reportados en estudios internacionales, recomendándose la determinación de valores de referencias autóctonos en diferentes grupos etarios.

Gaucher´s Disease is an autosomal recessive disorder and the most common lysosomal storage disease caused by deficiency of β-glucosidase enzyme activity. Objetive: to establish reference values for lysosomal enzyme activity of β-glucosidase and chitotriosidase in Venezuelan infants. Methods:A prospective cross-sectional study was conducted in 98 healthy infants with ages ranging from 1 month to 24 months (48 females and 50 males). Enzymatic activity of β-glucosidase and chitotriosidase were determined in dried blood spots (DBS) following the protocol by Chamoles et al. Statistical analysis of data was performed with software SPSS 17.0 for Windows Statistics. Results: The range of enzymatic activity for β-glucosidase was 2.3 to 12 nmol/ml/h, with an average of 6.7 ± 2.5. Chitotriosidase activity was from 0 to 44.2 nmol/ml/h with an average of 18.4 ± 10.4 using 3mm diameter discs of filter paper with dried blood (approximately 3.6 μl of blood). Conclusions: The reference values of lysosomal enzyme activity in DBS for β-Glucosidase and quitotriosidase were established for the first time in healthy Venezuelan infants; however, these results differ from those reported in international studies, for which reason autochthonous reference values should be determined in different age groups.

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13.

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
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Artigalás, Osvaldo

; Paskulin, Giorgio

; Riegel, Mariluce

; Burin, Maira

; Saraiva-Pereira, Maria Luiza

; Maluf, Sharbel

; Kiss, Andrea

; Schwartz, Ida Vanessa D.

Genetics and Molecular Biology

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2012, Volume 35 Nº 2 Páginas 424 - 427

Resumo: En | Texto: En | PDF: En

A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features.

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Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça
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Cardoso-Santos, Antonio

; Azevedo, Ana C. M. M.

; Fagondes, Simone

; Burin, Maira G.

; Giugliani, Roberto

; Schwartz, Ida V. D.

Jornal de Pediatria

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Abr 2008, Volume 84 Nº 2 Páginas 130 - 135

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

OBJETIVO: Descrever o perfil de mobilidade articular e das forças de garra e de pinça de indivíduos com MPS VI, além de sua correlação com a excreção urinária de glicosaminoglicanos, atividade da ARSB e distância percorrida no teste de caminhada de 6 minutos. MÉTODOS: Estudo observacional de 28 pacientes com MPS VI, não submetidos a tratamento específico. Todos os pacientes foram avaliados em relação à amplitude da mobilidade articular, forças de garra e de pinça, excreção urinária de glicosaminoglicanos, atividade da ARSB e teste de caminhada de 6 minutos. RESULTADOS: Demonstrou-se maior comprometimento de flexão de ombro, sem correlação com a idade, e da extensão de joelho e flexão de cotovelo, estas últimas correlacionadas negativamente com a idade. A força de garra mostrou-se comprometida em todos os pacientes, e a força de pinça apresentou correlação positiva com idade. CONCLUSÕES: A restrição da flexão de ombro, sem correlação com a idade, sugere que este achado esteja presente precocemente na MPS VI e se constitua em sinal clínico importante para suspeita diagnóstica desta doença. A amplitude da extensão de joelho e da flexão de cotovelo, por sua vez, por apresentarem correlação negativa com a idade, são possíveis marcadores da evolução da doença. Estudos adicionais são necessários para confirmação dessas hipóteses.

OBJECTIVE: To describe the profile of joint mobility and grip and pinch strength of MPS VI patients and to correlate this with urinary excretion of glycosaminoglycans (GAGs), ARSB activity, and the distance covered in a 6-minute walking test (6MWT). METHODS: This was an observational study of 28 patients with MPS VI, who had not undergone specific treatment. All patients were assessed for amplitude of joint mobility (shoulder, elbow, and knee), grip and pinch strength and urinary GAG excretion and also performed the 6MWT. RESULTS: Shoulder flexion exhibited the greatest limitation, with no correlation with age, followed by knee extension and elbow flexion, both of which were correlated inversely with age. Hand grip strength was compromised in all patients, and pinch strength exhibited a positive correlation with age. CONCLUSIONS: The fact that restricted shoulder flexion was not correlated with age suggests that this finding is present early on in MPS VI and that it constitutes an important clinical sign that should arouse diagnostic suspicion of this disease. The amplitude of knee extension and elbow flexion, in turn, are possible markers of disease progression since they have a negative correlation with age. Further studies are needed to confirm these hypotheses.

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15.

White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up
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Jardim, Laura B.

; Aesse, Flávio

; Vedolin, Leonardo M.

; Pitta-Pinheiro, Cláudio

; Marconato, João

; Burin, Maira G.

; Cecchin, Cláudia

; Netto, Cristina B.O.

; Matte, Ursula S.

; Pereira, Fernanda

; Kalakun, Luciane

; Giugliani, Roberto

Arquivos de Neuro-Psiquiatria

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Set 2006, Volume 64 Nº 3b Páginas 711 - 717

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

OBJETIVO: Relatar os achados neurológicos e de imagem do sistema nervoso central (SNC), observados durante 24 meses de tratamento de reposição enzimática (ERT) com agalsidase-alfa, em pacientes com a doença de Fabry (FD). MÉTODO: 8 pacientes foram incluídos; 6 completaram 24 meses de ERT. Os dados foram obtidos aos 0, 12 e 24 meses de ERT. Lesões de substância branca (WML) foram avaliadas assim como sua relação com a idade e o exame neurológico (escore SNC). RESULTADOS: Os achados de ressonância nuclear magnética foram estáveis em 3 pacientes. As WML e o escore SNC pioraram em um caso; flutuaram em um outro caso; e melhoraram no sexto paciente. No todo, havia 15 WML antes da ERT e 19 WML depois de 24 meses de ERT. Em dois anos, 4 lesões desapareceram e 8 novas surgiram. CONCLUSÕES: Viu-se um padrão difuso de WML assintomáticas, na FD. Em dois anos, algumas WML surgiram, enquanto outras desapareceram. Resta demonstrar se esses fenômenos fazem parte da história natural da doença.

PURPOSE: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha. METHOD: Eight patients were included. Six completed 24 months of ERT. Clinical and magnetic resonance imaging (MRI) data were obtained at 0, 12 and 24 months of ERT. White matter lesions (WML) were evaluated as well as their relation to age, symptoms and neurological examination (CNS score). RESULTS: MRI was stable in 3 patients. WML and CNS score worsened in one patient, fluctuated in another, and improved in the sixth patient. In the whole series, there were 15 WML at baseline, and 19 at the 24th month. In two years, 4 lesions disappeared, whereas 8 appeared. CONCLUSION: A widespread pattern of silent WML in FD was seen. In two years, some WML appeared, and some disappeared. If these phenomena were related to the natural history, remains to be demonstrated.

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