Pub Date : 2022-01-01DOI: 10.1590/2326-4594-jiems-2021-0033
Jesus Alfredo Uribe-Ardila, John Freddy Gamba-Rendon
{"title":"Alpha-Galactosidase A Levels in Colombian Males with End-Stage Renal Disease: Ten Years of Selective Screening in Dried Blood Spots","authors":"Jesus Alfredo Uribe-Ardila, John Freddy Gamba-Rendon","doi":"10.1590/2326-4594-jiems-2021-0033","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0033","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73415706","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 : 2022-01-01DOI: 10.1590/2326-4594-jiems-2022-0003
Julia Valeriano de Almeida, A. Barth, Alessandra Augusta Penna e Costa, D. Horovitz
{"title":"Spinal cord occupation ratio (SCOR) and its application in the diagnosis of cervical spinal cord compression in Mucopolysaccharidoses","authors":"Julia Valeriano de Almeida, A. Barth, Alessandra Augusta Penna e Costa, D. Horovitz","doi":"10.1590/2326-4594-jiems-2022-0003","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2022-0003","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"28 2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88348005","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 : 2022-01-01DOI: 10.1590/2326-4594-jiems-2021-0031
Livia d’Avila Paskulin, R. Starosta, F. Vairo, B. Krug, P. Picon, I. Schwartz
{"title":"Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience","authors":"Livia d’Avila Paskulin, R. Starosta, F. Vairo, B. Krug, P. Picon, I. Schwartz","doi":"10.1590/2326-4594-jiems-2021-0031","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0031","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84889753","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 : 2021-08-09DOI: 10.1590/2326-4594-jiems-2021-0004
C. Leiva, P. Bravo, C. Arias, J. Cabello, M. J. Leal-Witt, F. Salazar, V. Cornejo
Abstract It has been shown that there is a decrease in the concentrations of 25 hydroxyvitamin D (25-OHD) and bone mineral density (BMD) in patients with phenylketonuria (PKU) in their follow-up. Our objective was to determine concentrations of 25-OHD in subjects with PKU and hyperphenylalaninemia (HPA). Transversal analytical study considered three groups: G1-PKU with neonatal diagnosis and formula intake without Phe; G2-HPA, without specific treatment and G3-C control group. Sixteen patients per group (aged 6-23) were included. Levels of 25-OHD, lumbar spine (L2-L4), femur and total BMD, intact parathormone (PTH) and vitamin D (VitD) and calcium intake were calculated. The Kruskal-Wallis statistical test was applied (p-value 30 ng/mL). G1-PKU had a higher intake of VitD, with differences among groups. There were no significant differences among groups in relation to BMD and intact PTH. In conclusion, G1-PKU under treatment and with good adherence, does not present VitD deficiency and no BMD alterations are observed. In contrast, G2-HPA had a lower intake of VitD and decreased 25-OHD concentrations which could affect the bone architecture in the long term. Further studies on the G2-HPA are suggested.
{"title":"25 Hydroxy Vitamin D Level, Bone Health, Vitamin D and Calcium Intake in Chilean Patients with Phenylketonuria and Hyperphenylalaninemias","authors":"C. Leiva, P. Bravo, C. Arias, J. Cabello, M. J. Leal-Witt, F. Salazar, V. Cornejo","doi":"10.1590/2326-4594-jiems-2021-0004","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0004","url":null,"abstract":"Abstract It has been shown that there is a decrease in the concentrations of 25 hydroxyvitamin D (25-OHD) and bone mineral density (BMD) in patients with phenylketonuria (PKU) in their follow-up. Our objective was to determine concentrations of 25-OHD in subjects with PKU and hyperphenylalaninemia (HPA). Transversal analytical study considered three groups: G1-PKU with neonatal diagnosis and formula intake without Phe; G2-HPA, without specific treatment and G3-C control group. Sixteen patients per group (aged 6-23) were included. Levels of 25-OHD, lumbar spine (L2-L4), femur and total BMD, intact parathormone (PTH) and vitamin D (VitD) and calcium intake were calculated. The Kruskal-Wallis statistical test was applied (p-value 30 ng/mL). G1-PKU had a higher intake of VitD, with differences among groups. There were no significant differences among groups in relation to BMD and intact PTH. In conclusion, G1-PKU under treatment and with good adherence, does not present VitD deficiency and no BMD alterations are observed. In contrast, G2-HPA had a lower intake of VitD and decreased 25-OHD concentrations which could affect the bone architecture in the long term. Further studies on the G2-HPA are suggested.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"20 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76495265","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 : 2021-07-02DOI: 10.1590/2326-4594-jiems-2021-0010
G. Borrajo, V. Doña
Abstract Residual DBS specimens from newborns diagnosed with Phenylketonuria, Congenital Hypothyroidism, Cystic Fibrosis, Congenital Adrenal Hyperplasia and Galactosemia collected within 1995-2018, stored in cardboard boxes at ambient temperature in uncontrolled conditions, were retested for phenylalanine (Phe), thyrotropin (TSH), immunoreactive trypsinogen (IRT), total galactose (TGal) and 17-hydroxyprogesterone (17OHP), to demonstrate how long are they stable in these conditions and useful to reconfirm a previous abnormal result. Recovery percentage at retesting and qualitative interpretation regarding the current cutoff were evaluated. Phe, TSH and IRT recoveries showed decreasing trends along time. Phe recovery was 64 % after 2-years storage; TSH decayed rapidly recovering 47.3 % at 1-year, while IRT showed recoveries of 60 % at 1-year. Although 17OHP recovery presented a wide variation of results, a decaying trend was also found. Results suggest 17OHP is more stable than TSH and IRT, as supported by recoveries > 71 % when stored ≤ 2-years. TGal recovery presented an erratic behavior, so that it was not possible to estimate expected concentrations as a function of storage time. TGal recoveries above 100 % were found in UDP-galactose-4-epimerase and galactose-1-phosphate uridyltransferase deficiencies, evidencing possible galactose liberation from other sources. These results make a very valuable contribution for programs storing residual DBS in uncontrolled conditions.
{"title":"How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?","authors":"G. Borrajo, V. Doña","doi":"10.1590/2326-4594-jiems-2021-0010","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0010","url":null,"abstract":"Abstract Residual DBS specimens from newborns diagnosed with Phenylketonuria, Congenital Hypothyroidism, Cystic Fibrosis, Congenital Adrenal Hyperplasia and Galactosemia collected within 1995-2018, stored in cardboard boxes at ambient temperature in uncontrolled conditions, were retested for phenylalanine (Phe), thyrotropin (TSH), immunoreactive trypsinogen (IRT), total galactose (TGal) and 17-hydroxyprogesterone (17OHP), to demonstrate how long are they stable in these conditions and useful to reconfirm a previous abnormal result. Recovery percentage at retesting and qualitative interpretation regarding the current cutoff were evaluated. Phe, TSH and IRT recoveries showed decreasing trends along time. Phe recovery was 64 % after 2-years storage; TSH decayed rapidly recovering 47.3 % at 1-year, while IRT showed recoveries of 60 % at 1-year. Although 17OHP recovery presented a wide variation of results, a decaying trend was also found. Results suggest 17OHP is more stable than TSH and IRT, as supported by recoveries > 71 % when stored ≤ 2-years. TGal recovery presented an erratic behavior, so that it was not possible to estimate expected concentrations as a function of storage time. TGal recoveries above 100 % were found in UDP-galactose-4-epimerase and galactose-1-phosphate uridyltransferase deficiencies, evidencing possible galactose liberation from other sources. These results make a very valuable contribution for programs storing residual DBS in uncontrolled conditions.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85606303","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-2021-0007
C. Arias, I. Hidalgo, María Florencia Salazar, J. Cabello, F. Peñaloza, P. Peredo, A. Valiente, Karen Fuenzalid, Patricio Guerrero, Verónica Cornej
{"title":"Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile","authors":"C. Arias, I. Hidalgo, María Florencia Salazar, J. Cabello, F. Peñaloza, P. Peredo, A. Valiente, Karen Fuenzalid, Patricio Guerrero, Verónica Cornej","doi":"10.1590/2326-4594-jiems-2021-0007","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0007","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"103 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77733170","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-2020-0023
J. Borda, Alfredo Uribe-Ardila
{"title":"Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia","authors":"J. Borda, Alfredo Uribe-Ardila","doi":"10.1590/2326-4594-JIEMS-2020-0023","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2020-0023","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84521683","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-2020-0030
G. M. Papazoglu, S. Ruiz, R. Salinas, M.I. Pereira, M.A. Cubilla, F. Pesaola, S. Ghione, N. Ramadán, I. Martínez-Duncker, C. Asteggiano
{"title":"Platelet Membrane Glycoprofiling in a PMM2-CDG Patient","authors":"G. M. Papazoglu, S. Ruiz, R. Salinas, M.I. Pereira, M.A. Cubilla, F. Pesaola, S. Ghione, N. Ramadán, I. Martínez-Duncker, C. Asteggiano","doi":"10.1590/2326-4594-jiems-2020-0030","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2020-0030","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"130 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79194311","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-2021-0025
C. Souza, B. M. Oliveira, I. Schwartz, T. Derks
{"title":"Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders","authors":"C. Souza, B. M. Oliveira, I. Schwartz, T. Derks","doi":"10.1590/2326-4594-jiems-2021-0025","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0025","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74136177","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-2021-0021
L. Giraldo, J. Satizabal, Adalberto Sánchez Gómez
{"title":"Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia","authors":"L. Giraldo, J. Satizabal, Adalberto Sánchez Gómez","doi":"10.1590/2326-4594-jiems-2021-0021","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0021","url":null,"abstract":"","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"19 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87430922","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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