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1دورية أكاديمية
المؤلفون: van Wegberg, A. M. J., van der Weerd, J. C., Engelke, U. F. H., Coene, K. L. M., Jahja, R., Bakker, S. J. L., Huijbregts, S. C. J., Wevers, R. A., Heiner‐Fokkema, M. R., van Spronsen, F. J.
المساهمون: Nutricia Research Foundation, Netherlands Organization for International Cooperation in Higher Education
المصدر: Journal of Inherited Metabolic Disease ; ISSN 0141-8955 1573-2665
الوصف: Recent studies in PKU patients identified alternative biomarkers in blood using untargeted metabolomics. To test the added clinical value of these novel biomarkers, targeted metabolomics of 11 PKU biomarkers (phenylalanine, glutamyl‐phenylalanine, glutamyl‐glutamyl‐phenylalanine, N‐lactoyl‐phenylalanine, N‐acetyl‐phenylalanine, the dipeptides phenylalanyl‐phenylalanine and phenylalanyl‐leucine, phenylalanine–hexose conjugate, phenyllactate, phenylpyruvate, and phenylacetate) was performed in stored serum samples of the well‐defined PKU patient‐COBESO cohort and a healthy control group. Serum samples of 35 PKU adults and 20 healthy age‐ and sex‐matched controls were analyzed using ultra‐high performance liquid chromatography quadrupole time‐of‐flight mass spectrometry. Group differences were tested using the Mann–Whitney U test. Multiple linear regression analyses were performed with these biomarkers as predictors of (neuro‐)cognitive functions working memory, sustained attention, inhibitory control, and mental health. Compared to healthy controls, phenylalanine, glutamyl‐phenylalanine, N‐lactoyl‐phenylalanine, N‐acetyl‐phenylalanine, phenylalanine–hexose conjugate, phenyllactate, phenylpyruvate, and phenylacetate were significant elevated in PKU adults ( p < 0.001). The remaining three were below limit of detection in PKU and controls. Both phenylalanine and N‐lactoyl‐phenylalanine were associated with DSM‐VI Attention deficit/hyperactivity ( R 2 = 0.195, p = 0.039 and R 2 = 0.335, p = 0.002, respectively) of the ASR questionnaire. In addition, N‐lactoyl‐phenylalanine showed significant associations with ASR DSM‐VI avoidant personality ( R 2 = 0.265, p = 0.010), internalizing ( R 2 = 0.192, p = 0.046) and externalizing problems ( R 2 = 0.217, p = 0.029) of the ASR questionnaire and multiple aspects of the MS2D and FI tests, reflecting working memory with R 2 between 0.178 ( p = 0.048) and 0.204 ( p = 0.033). Even though the strength of the models was not considered strong, N‐lactoyl‐phenylalanine ...
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2دورية أكاديمية
المؤلفون: Falkenberg, KD, Braverman, NE, Moser, AB, Steinberg, SJ, Klouwer, FCC, Schluter, A, Ruiz, M, Pujol, A, Engvall, M, Naess, K, van Spronsen, F, Korver-Keularts, I, Rubio-Gozalbo, ME, Ferdinandusse, S, Wanders, RJA, Waterham, HR
المصدر: American journal of human genetics. 101(6):965-976
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Stolwijk, N N, Bosch, A M, Bouwhuis, N, Häberle, Johannes, van Karnebeek, C, van Spronsen, F J, Langeveld, M, Hollak, C E M
المصدر: Stolwijk, N N; Bosch, A M; Bouwhuis, N; Häberle, Johannes; van Karnebeek, C; van Spronsen, F J; Langeveld, M; Hollak, C E M (2023). Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism. Journal of Inherited Metabolic Disease, 46(6):1017-1028.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, European Union, food supplements, foods for special medical purposes, inborn errors of metabolism, medical food, nutritional therapy
الوصف: Dietary or nutritional management strategies are the cornerstone of treatment for many inborn errors of metabolism (IEMs). Though a vital part of standard of care, the products prescribed for this are often not formally registered as medication. Instead, they are regulated as food or as food supplements, impacting the level of oversight as well as reimbursed policies. This scoping literature review explores the European regulatory framework relevant to these products and its implications for current clinical practice. Searches of electronic databases (PubMed, InfoCuria) were carried out, supplemented by articles identified by experts, from reference lists, relevant guidelines and case-law by the European Court of Justice. In the European Union (EU), nutritional therapy products are regulated as food supplements, food for special medical purposes (FSMPs) or medication. The requirements and level of oversight increase for each of these categories. Relying on lesser-regulated food products to treat IEMs raises concerns regarding product quality, safety, reimbursement and patient access. In order to ascertain whether a nutritional therapy product functions as medication and thus could be classified as such, we developed a flowchart to assess treatment characteristics (benefit, pharmacological attributes, and safety) with a case-based approach. Evaluating nutritional therapy products might reveal a justifiable need for a pharmaceutical product. A flowchart can facilitate systematically distinguishing products that function medication-like in the management of IEMs. Subsequently, finding and implementing appropriate solutions for these products might help improve the quality, safety and accessibility including reimbursement of treatment for IEMs.
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/253239/1/ZORA_253239.pdfTest; info:pmid/37650776; urn:issn:0141-8955
الإتاحة: https://doi.org/10.5167/uzh-25323910.1002/jimd.12677Test
https://www.zora.uzh.ch/id/eprint/253239Test/
https://www.zora.uzh.ch/id/eprint/253239/1/ZORA_253239.pdfTest -
4دورية أكاديمية
المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.
المساهمون: Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg
مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1, Genetics(clinical), Genetics, Journal Article
الوصف: Dried blood spot succinylacetone (SA) is often used as a biomarker for newborn screening (NBS) for tyrosinemia type 1 (TT1). However, false-positive SA results are often observed. Elevated SA may also be due to maleylacetoacetate isomerase deficiency (MAAI-D), which appears to be clinically insignificant. This study investigated whether urine organic acid (uOA) and quantitative urine maleic acid (Q-uMA) analyses can distinguish between TT1 and MAAI-D. We reevaluated/measured uOA (GC–MS) and/or Q-uMA (LC–MS/MS) in available urine samples of nine referred newborns (2 TT1, 7 false-positive), eight genetically confirmed MAAI-D children, and 66 controls. Maleic acid was elevated in uOA of 5/7 false-positive newborns and in the three available samples of confirmed MAAI-D children, but not in TT1 patients. Q-uMA ranged from not detectable to 1.16 mmol/mol creatinine in controls (n = 66) and from 0.95 to 192.06 mmol/mol creatinine in false-positive newborns and MAAI-D children (n = 10). MAAI-D was genetically confirmed in 4/7 false-positive newborns, all with elevated Q-uMA, and rejected in the two newborns with normal Q-uMA. No sample was available for genetic analysis of the last false-positive infant with elevated Q-uMA. Our study shows that MAAI-D is a recognizable cause of false-positive TT1 NBS results. Elevated urine maleic acid excretion seems highly effective in discriminating MAAI-D from TT1.
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Stolwijk, N. N., Bosch, A. M., Bouwhuis, N., Häberle, J., van Karnebeek, C., van Spronsen, F. J., Langeveld, M., Hollak, C. E.M.
المصدر: Stolwijk , N N , Bosch , A M , Bouwhuis , N , Häberle , J , van Karnebeek , C , van Spronsen , F J , Langeveld , M & Hollak , C E M 2023 , ' Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism ' , Journal of Inherited Metabolic Disease , vol. 46 , no. 6 , pp. 1017-1028 . https://doi.org/10.1002/jimd.12677Test
مصطلحات موضوعية: European Union, food supplements, foods for special medical purposes, inborn errors of metabolism, medical food, nutritional therapy
الوصف: Dietary or nutritional management strategies are the cornerstone of treatment for many inborn errors of metabolism (IEMs). Though a vital part of standard of care, the products prescribed for this are often not formally registered as medication. Instead, they are regulated as food or as food supplements, impacting the level of oversight as well as reimbursed policies. This scoping literature review explores the European regulatory framework relevant to these products and its implications for current clinical practice. Searches of electronic databases (PubMed, InfoCuria) were carried out, supplemented by articles identified by experts, from reference lists, relevant guidelines and case-law by the European Court of Justice. In the European Union (EU), nutritional therapy products are regulated as food supplements, food for special medical purposes (FSMPs) or medication. The requirements and level of oversight increase for each of these categories. Relying on lesser-regulated food products to treat IEMs raises concerns regarding product quality, safety, reimbursement and patient access. In order to ascertain whether a nutritional therapy product functions as medication and thus could be classified as such, we developed a flowchart to assess treatment characteristics (benefit, pharmacological attributes, and safety) with a case-based approach. Evaluating nutritional therapy products might reveal a justifiable need for a pharmaceutical product. A flowchart can facilitate systematically distinguishing products that function medication-like in the management of IEMs. Subsequently, finding and implementing appropriate solutions for these products might help improve the quality, safety and accessibility including reimbursement of treatment for IEMs.
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12677Test
https://hdl.handle.net/11370/d7450522-aecb-4d43-9f5f-a8b07057f4e2Test
https://research.rug.nl/en/publications/d7450522-aecb-4d43-9f5f-a8b07057f4e2Test
https://pure.rug.nl/ws/files/876945607/Food_or_medicine_A_European_regulatory_perspective_onnutritional_therapy_products_to_treat_inborn_errors_ofmetabolism.pdfTest
http://www.scopus.com/inward/record.url?scp=85170712073&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.
المصدر: van Vliet , K , Dijkstra , A M , Bouva , M J , van der Krogt , J , Bijsterveld , K , van der Sluijs , F , de Sain-van der Velden , M G , Koop , K , Rossi , A , Thomas , J A , Patera , C A , Kiewiet , M B G , Waters , P J , Cyr , D , Boelen , A , van Spronsen , F J & Heiner-Fokkema , M R 2023 , ' Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency : ....
مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1
الوصف: Dried blood spot succinylacetone (SA) is often used as a biomarker for newborn screening (NBS) for tyrosinemia type 1 (TT1). However, false-positive SA results are often observed. Elevated SA may also be due to maleylacetoacetate isomerase deficiency (MAAI-D), which appears to be clinically insignificant. This study investigated whether urine organic acid (uOA) and quantitative urine maleic acid (Q-uMA) analyses can distinguish between TT1 and MAAI-D. We reevaluated/measured uOA (GC–MS) and/or Q-uMA (LC–MS/MS) in available urine samples of nine referred newborns (2 TT1, 7 false-positive), eight genetically confirmed MAAI-D children, and 66 controls. Maleic acid was elevated in uOA of 5/7 false-positive newborns and in the three available samples of confirmed MAAI-D children, but not in TT1 patients. Q-uMA ranged from not detectable to 1.16 mmol/mol creatinine in controls (n = 66) and from 0.95 to 192.06 mmol/mol creatinine in false-positive newborns and MAAI-D children (n = 10). MAAI-D was genetically confirmed in 4/7 false-positive newborns, all with elevated Q-uMA, and rejected in the two newborns with normal Q-uMA. No sample was available for genetic analysis of the last false-positive infant with elevated Q-uMA. Our study shows that MAAI-D is a recognizable cause of false-positive TT1 NBS results. Elevated urine maleic acid excretion seems highly effective in discriminating MAAI-D from TT1.
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12669Test
https://hdl.handle.net/11370/006934b2-e040-419e-b7f5-8add98a90d5cTest
https://research.rug.nl/en/publications/006934b2-e040-419e-b7f5-8add98a90d5cTest
https://pure.rug.nl/ws/files/862911851/J_of_Inher_Metab_Disea_-_2023_-_Vliet_-_Maleic_acid_is_a_biomarker_for_maleylacetoacetate_isomerase_deficiency_.pdfTest
http://www.scopus.com/inward/record.url?scp=85167591588&partnerID=8YFLogxKTest -
7دورية أكاديمية
المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ
المصدر: Orphanet journal of rare diseases. 15(1):3
مصطلحات موضوعية: Medicin och hälsovetenskap
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المؤلفون: MacDonald, A, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, Coşkun, T, Feillet, F, Giżewska, M, Huijbregts, S C, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F, van Spronsen, F J
المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), RUN
الوصف: An amendment to this paper has been published and can be accessed via the original article.
وصف الملف: application/pdf
العلاقة: 1750-1172; PURE: 20224806
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9دورية أكاديمية
المؤلفون: van Vliet, D, van der Goot, E, van Ginkel, W G, van Faassen, H J R, de Blaauw, P, Kema, I P, Heiner-Fokkema, M R, van der Zee, E A, van Spronsen, F J
المصدر: van Vliet , D , van der Goot , E , van Ginkel , W G , van Faassen , H J R , de Blaauw , P , Kema , I P , Heiner-Fokkema , M R , van der Zee , E A & van Spronsen , F J 2022 , ' The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations ' , Molecular Genetics and Metabolism , vol. 135 , no. 1 , pp. 27-34 . https://doi.org/10.1016/j.ymgme.2021.11.003Test
مصطلحات موضوعية: Phenylketonuria, Inborn error of metabolism, Large neutral amino acids, Mouse model, Dietary treatment, Monoaminergic neurotransmitters, Brain biochemistry, NEUTRAL AMINO-ACIDS, TYROSINE SUPPLEMENTATION, ADULTS, PKU, RESTRICTION, ISOLEUCINE, VALINE, RECOMMENDATIONS, TRYPTOPHAN, TRANSPORT
الوصف: BACKGROUND: Large neutral amino acid (LNAA) treatment has been suggested as alternative to the burdensome severe phenylalanine-restricted diet. While its working mechanisms and optimal composition have recently been further elucidated, the question whether LNAA treatment requires the natural protein-restricted diet, has still remained. OBJECTIVE: Firstly, to determine whether an additional liberalized natural protein-restricted diet could further improve brain amino acid and monoamine concentrations in phenylketonuria mice on LNAA treatment. Secondly, to compare the effect between LNAA treatment (without natural protein) restriction and different levels of a phenylalanine-restricted diet (without LNAA treatment) on brain amino acid and monoamine concentrations in phenylketonuria mice. DESIGN: BTBR Pah-enu2 mice were divided into two experimental groups that received LNAA treatment with either an unrestricted or semi phenylalanine-restricted diet. Control groups included Pah-enu2 mice on the AIN-93 M diet, a severe or semi phenylalanine-restricted diet without LNAA treatment, and wild-type mice receiving the AIN-93 M diet. After ten weeks, brain and plasma samples were collected to measure amino acid profiles and brain monoaminergic neurotransmitter concentrations. RESULTS: Adding a semi phenylalanine-restricted diet to LNAA treatment resulted in lower plasma phenylalanine but comparable brain amino acid and monoamine concentrations as compared to LNAA treatment (without phenylalanine restriction). LNAA treatment (without phenylalanine restriction) resulted in comparable brain monoamine but higher brain phenylalanine concentrations compared to the severe phenylalanine-restricted diet, and significantly higher brain monoamine but comparable phenylalanine concentrations as compared to the semi phenylalanine-restricted diet. CONCLUSIONS: Present results in PKU mice suggest that LNAA treatment in PKU patients does not need the phenylalanine-restricted diet. In PKU mice, LNAA treatment (without phenylalanine ...
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ymgme.2021.11.003Test
https://hdl.handle.net/11370/bc2f5a62-40a6-43bc-8b7e-76c89d389338Test
https://research.rug.nl/en/publications/bc2f5a62-40a6-43bc-8b7e-76c89d389338Test
https://pure.rug.nl/ws/files/210953284/1_s2.0_S1096719221008210_main.pdfTest -
10دورية أكاديمية
المؤلفون: Heard, JM, Bellettato, C, Lingen, C, Scarpa, M, Debray, FG, Nassogne, MC, van Coster, R, De Meirleir, L, Eyskens, F, Morava, E, Baric, I, Kozich, V, Lund, AM, Germain, D, Belmatoug, N, Guffon, N, Labrune, P, Gouya, L, De Lonlay, P, Schiff, M, Dobbelaere, D, Chabrol, B, Ploeckinger, U, Das, AM, Spiekerkoetter, U, Rutsch, F, Mohnike, K, Hahn, A, Kolker, S, Ullrich, K, Hennermann, J, Balogh, I, Bembi, B, Donati, MA, Gasperini, S, Parenti, G, Salviati, A, Vici, CD, Di Rocco, M, Cefalo, G, Burlina, A, Ceccarini, G, Federico, A, Van der Ploeg, A, Rubio-Gozalbo, ME, Van Spronsen, F, Visser, G, Bosch, A, Tangeraas, T, Sanderberg, S, Kiec-Wilk, B, Gaspar, AMSM, Martins, E, Silva, EMFR, Matos, LMDFD, Azevedo, O, Tansek, MZ, Couce-Pico, ML, Cazorla, AG, Azuara, LAE, Del Toro-Riera, M, Silva, MTG, Lajic, S, Darin, N, Deegan, P, Vijay, S, Chronopolou, E, Jones, S, Chakrapani, A, Hiwot, T
المصدر: Orphanet journal of rare diseases. 14(1):119
مصطلحات موضوعية: Medicin och hälsovetenskap
النص الكامل