Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods...
Ausführliche Beschreibung
Autor*in: |
Mayorandan, Sebene [verfasserIn] |
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E-Artikel |
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Englisch |
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2014 |
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Anmerkung: |
© Mayorandan et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Übergeordnetes Werk: |
Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 9(2014), 1 vom: 01. Aug. |
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Übergeordnetes Werk: |
volume:9 ; year:2014 ; number:1 ; day:01 ; month:08 |
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DOI / URN: |
10.1186/s13023-014-0107-7 |
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Katalog-ID: |
SPR029488729 |
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245 | 1 | 0 | |a Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice |
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520 | |a Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations. | ||
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650 | 4 | |a Hepatocellular carcinoma |7 (dpeaa)DE-He213 | |
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700 | 1 | |a Meyer, Uta |4 aut | |
700 | 1 | |a Gokcay, Gülden |4 aut | |
700 | 1 | |a Segarra, Nuria Garcia |4 aut | |
700 | 1 | |a de Baulny, Hélène Ogier |4 aut | |
700 | 1 | |a van Spronsen, Francjan |4 aut | |
700 | 1 | |a Zeman, Jiri |4 aut | |
700 | 1 | |a de Laet, Corinne |4 aut | |
700 | 1 | |a Spiekerkoetter, Ute |4 aut | |
700 | 1 | |a Thimm, Eva |4 aut | |
700 | 1 | |a Maiorana, Arianna |4 aut | |
700 | 1 | |a Dionisi-Vici, Carlo |4 aut | |
700 | 1 | |a Moeslinger, Dorothea |4 aut | |
700 | 1 | |a Brunner-Krainz, Michaela |4 aut | |
700 | 1 | |a Lotz-Havla, Amelie Sophia |4 aut | |
700 | 1 | |a Cocho de Juan, José Angel |4 aut | |
700 | 1 | |a Couce Pico, Maria Luz |4 aut | |
700 | 1 | |a Santer, René |4 aut | |
700 | 1 | |a Scholl-Bürgi, Sabine |4 aut | |
700 | 1 | |a Mandel, Hanna |4 aut | |
700 | 1 | |a Bliksrud, Yngve Thomas |4 aut | |
700 | 1 | |a Freisinger, Peter |4 aut | |
700 | 1 | |a Aldamiz-Echevarria, Luis Jose |4 aut | |
700 | 1 | |a Hochuli, Michel |4 aut | |
700 | 1 | |a Gautschi, Matthias |4 aut | |
700 | 1 | |a Endig, Jessica |4 aut | |
700 | 1 | |a Jordan, Jens |4 aut | |
700 | 1 | |a McKiernan, Patrick |4 aut | |
700 | 1 | |a Ernst, Stefanie |4 aut | |
700 | 1 | |a Morlot, Susanne |4 aut | |
700 | 1 | |a Vogel, Arndt |4 aut | |
700 | 1 | |a Sander, Johannes |4 aut | |
700 | 1 | |a Das, Anibh Martin |4 aut | |
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10.1186/s13023-014-0107-7 doi (DE-627)SPR029488729 (SPR)s13023-014-0107-7-e DE-627 ger DE-627 rakwb eng Mayorandan, Sebene verfasserin aut Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mayorandan et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations. Diet (dpeaa)DE-He213 Hepatocellular carcinoma (dpeaa)DE-He213 Liver transplantation (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 NTBC (dpeaa)DE-He213 Psychomotor impairment (dpeaa)DE-He213 Succinylacetone (dpeaa)DE-He213 Therapeutic monitoring (dpeaa)DE-He213 Tyrosine (dpeaa)DE-He213 Meyer, Uta aut Gokcay, Gülden aut Segarra, Nuria Garcia aut de Baulny, Hélène Ogier aut van Spronsen, Francjan aut Zeman, Jiri aut de Laet, Corinne aut Spiekerkoetter, Ute aut Thimm, Eva aut Maiorana, Arianna aut Dionisi-Vici, Carlo aut Moeslinger, Dorothea aut Brunner-Krainz, Michaela aut Lotz-Havla, Amelie Sophia aut Cocho de Juan, José Angel aut Couce Pico, Maria Luz aut Santer, René aut Scholl-Bürgi, Sabine aut Mandel, Hanna aut Bliksrud, Yngve Thomas aut Freisinger, Peter aut Aldamiz-Echevarria, Luis Jose aut Hochuli, Michel aut Gautschi, Matthias aut Endig, Jessica aut Jordan, Jens aut McKiernan, Patrick aut Ernst, Stefanie aut Morlot, Susanne aut Vogel, Arndt aut Sander, Johannes aut Das, Anibh Martin aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 9(2014), 1 vom: 01. Aug. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:9 year:2014 number:1 day:01 month:08 https://dx.doi.org/10.1186/s13023-014-0107-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2014 1 01 08 |
spelling |
10.1186/s13023-014-0107-7 doi (DE-627)SPR029488729 (SPR)s13023-014-0107-7-e DE-627 ger DE-627 rakwb eng Mayorandan, Sebene verfasserin aut Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mayorandan et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations. Diet (dpeaa)DE-He213 Hepatocellular carcinoma (dpeaa)DE-He213 Liver transplantation (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 NTBC (dpeaa)DE-He213 Psychomotor impairment (dpeaa)DE-He213 Succinylacetone (dpeaa)DE-He213 Therapeutic monitoring (dpeaa)DE-He213 Tyrosine (dpeaa)DE-He213 Meyer, Uta aut Gokcay, Gülden aut Segarra, Nuria Garcia aut de Baulny, Hélène Ogier aut van Spronsen, Francjan aut Zeman, Jiri aut de Laet, Corinne aut Spiekerkoetter, Ute aut Thimm, Eva aut Maiorana, Arianna aut Dionisi-Vici, Carlo aut Moeslinger, Dorothea aut Brunner-Krainz, Michaela aut Lotz-Havla, Amelie Sophia aut Cocho de Juan, José Angel aut Couce Pico, Maria Luz aut Santer, René aut Scholl-Bürgi, Sabine aut Mandel, Hanna aut Bliksrud, Yngve Thomas aut Freisinger, Peter aut Aldamiz-Echevarria, Luis Jose aut Hochuli, Michel aut Gautschi, Matthias aut Endig, Jessica aut Jordan, Jens aut McKiernan, Patrick aut Ernst, Stefanie aut Morlot, Susanne aut Vogel, Arndt aut Sander, Johannes aut Das, Anibh Martin aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 9(2014), 1 vom: 01. Aug. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:9 year:2014 number:1 day:01 month:08 https://dx.doi.org/10.1186/s13023-014-0107-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2014 1 01 08 |
allfields_unstemmed |
10.1186/s13023-014-0107-7 doi (DE-627)SPR029488729 (SPR)s13023-014-0107-7-e DE-627 ger DE-627 rakwb eng Mayorandan, Sebene verfasserin aut Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mayorandan et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations. Diet (dpeaa)DE-He213 Hepatocellular carcinoma (dpeaa)DE-He213 Liver transplantation (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 NTBC (dpeaa)DE-He213 Psychomotor impairment (dpeaa)DE-He213 Succinylacetone (dpeaa)DE-He213 Therapeutic monitoring (dpeaa)DE-He213 Tyrosine (dpeaa)DE-He213 Meyer, Uta aut Gokcay, Gülden aut Segarra, Nuria Garcia aut de Baulny, Hélène Ogier aut van Spronsen, Francjan aut Zeman, Jiri aut de Laet, Corinne aut Spiekerkoetter, Ute aut Thimm, Eva aut Maiorana, Arianna aut Dionisi-Vici, Carlo aut Moeslinger, Dorothea aut Brunner-Krainz, Michaela aut Lotz-Havla, Amelie Sophia aut Cocho de Juan, José Angel aut Couce Pico, Maria Luz aut Santer, René aut Scholl-Bürgi, Sabine aut Mandel, Hanna aut Bliksrud, Yngve Thomas aut Freisinger, Peter aut Aldamiz-Echevarria, Luis Jose aut Hochuli, Michel aut Gautschi, Matthias aut Endig, Jessica aut Jordan, Jens aut McKiernan, Patrick aut Ernst, Stefanie aut Morlot, Susanne aut Vogel, Arndt aut Sander, Johannes aut Das, Anibh Martin aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 9(2014), 1 vom: 01. Aug. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:9 year:2014 number:1 day:01 month:08 https://dx.doi.org/10.1186/s13023-014-0107-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2014 1 01 08 |
allfieldsGer |
10.1186/s13023-014-0107-7 doi (DE-627)SPR029488729 (SPR)s13023-014-0107-7-e DE-627 ger DE-627 rakwb eng Mayorandan, Sebene verfasserin aut Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mayorandan et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations. Diet (dpeaa)DE-He213 Hepatocellular carcinoma (dpeaa)DE-He213 Liver transplantation (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 NTBC (dpeaa)DE-He213 Psychomotor impairment (dpeaa)DE-He213 Succinylacetone (dpeaa)DE-He213 Therapeutic monitoring (dpeaa)DE-He213 Tyrosine (dpeaa)DE-He213 Meyer, Uta aut Gokcay, Gülden aut Segarra, Nuria Garcia aut de Baulny, Hélène Ogier aut van Spronsen, Francjan aut Zeman, Jiri aut de Laet, Corinne aut Spiekerkoetter, Ute aut Thimm, Eva aut Maiorana, Arianna aut Dionisi-Vici, Carlo aut Moeslinger, Dorothea aut Brunner-Krainz, Michaela aut Lotz-Havla, Amelie Sophia aut Cocho de Juan, José Angel aut Couce Pico, Maria Luz aut Santer, René aut Scholl-Bürgi, Sabine aut Mandel, Hanna aut Bliksrud, Yngve Thomas aut Freisinger, Peter aut Aldamiz-Echevarria, Luis Jose aut Hochuli, Michel aut Gautschi, Matthias aut Endig, Jessica aut Jordan, Jens aut McKiernan, Patrick aut Ernst, Stefanie aut Morlot, Susanne aut Vogel, Arndt aut Sander, Johannes aut Das, Anibh Martin aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 9(2014), 1 vom: 01. Aug. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:9 year:2014 number:1 day:01 month:08 https://dx.doi.org/10.1186/s13023-014-0107-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2014 1 01 08 |
allfieldsSound |
10.1186/s13023-014-0107-7 doi (DE-627)SPR029488729 (SPR)s13023-014-0107-7-e DE-627 ger DE-627 rakwb eng Mayorandan, Sebene verfasserin aut Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Mayorandan et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations. Diet (dpeaa)DE-He213 Hepatocellular carcinoma (dpeaa)DE-He213 Liver transplantation (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 NTBC (dpeaa)DE-He213 Psychomotor impairment (dpeaa)DE-He213 Succinylacetone (dpeaa)DE-He213 Therapeutic monitoring (dpeaa)DE-He213 Tyrosine (dpeaa)DE-He213 Meyer, Uta aut Gokcay, Gülden aut Segarra, Nuria Garcia aut de Baulny, Hélène Ogier aut van Spronsen, Francjan aut Zeman, Jiri aut de Laet, Corinne aut Spiekerkoetter, Ute aut Thimm, Eva aut Maiorana, Arianna aut Dionisi-Vici, Carlo aut Moeslinger, Dorothea aut Brunner-Krainz, Michaela aut Lotz-Havla, Amelie Sophia aut Cocho de Juan, José Angel aut Couce Pico, Maria Luz aut Santer, René aut Scholl-Bürgi, Sabine aut Mandel, Hanna aut Bliksrud, Yngve Thomas aut Freisinger, Peter aut Aldamiz-Echevarria, Luis Jose aut Hochuli, Michel aut Gautschi, Matthias aut Endig, Jessica aut Jordan, Jens aut McKiernan, Patrick aut Ernst, Stefanie aut Morlot, Susanne aut Vogel, Arndt aut Sander, Johannes aut Das, Anibh Martin aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 9(2014), 1 vom: 01. Aug. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:9 year:2014 number:1 day:01 month:08 https://dx.doi.org/10.1186/s13023-014-0107-7 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2014 1 01 08 |
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Mayorandan, Sebene @@aut@@ Meyer, Uta @@aut@@ Gokcay, Gülden @@aut@@ Segarra, Nuria Garcia @@aut@@ de Baulny, Hélène Ogier @@aut@@ van Spronsen, Francjan @@aut@@ Zeman, Jiri @@aut@@ de Laet, Corinne @@aut@@ Spiekerkoetter, Ute @@aut@@ Thimm, Eva @@aut@@ Maiorana, Arianna @@aut@@ Dionisi-Vici, Carlo @@aut@@ Moeslinger, Dorothea @@aut@@ Brunner-Krainz, Michaela @@aut@@ Lotz-Havla, Amelie Sophia @@aut@@ Cocho de Juan, José Angel @@aut@@ Couce Pico, Maria Luz @@aut@@ Santer, René @@aut@@ Scholl-Bürgi, Sabine @@aut@@ Mandel, Hanna @@aut@@ Bliksrud, Yngve Thomas @@aut@@ Freisinger, Peter @@aut@@ Aldamiz-Echevarria, Luis Jose @@aut@@ Hochuli, Michel @@aut@@ Gautschi, Matthias @@aut@@ Endig, Jessica @@aut@@ Jordan, Jens @@aut@@ McKiernan, Patrick @@aut@@ Ernst, Stefanie @@aut@@ Morlot, Susanne @@aut@@ Vogel, Arndt @@aut@@ Sander, Johannes @@aut@@ Das, Anibh Martin @@aut@@ |
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As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. 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Mayorandan, Sebene misc Diet misc Hepatocellular carcinoma misc Liver transplantation misc Newborn screening misc NTBC misc Psychomotor impairment misc Succinylacetone misc Therapeutic monitoring misc Tyrosine Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice |
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice Diet (dpeaa)DE-He213 Hepatocellular carcinoma (dpeaa)DE-He213 Liver transplantation (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 NTBC (dpeaa)DE-He213 Psychomotor impairment (dpeaa)DE-He213 Succinylacetone (dpeaa)DE-He213 Therapeutic monitoring (dpeaa)DE-He213 Tyrosine (dpeaa)DE-He213 |
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Mayorandan, Sebene Meyer, Uta Gokcay, Gülden Segarra, Nuria Garcia de Baulny, Hélène Ogier van Spronsen, Francjan Zeman, Jiri de Laet, Corinne Spiekerkoetter, Ute Thimm, Eva Maiorana, Arianna Dionisi-Vici, Carlo Moeslinger, Dorothea Brunner-Krainz, Michaela Lotz-Havla, Amelie Sophia Cocho de Juan, José Angel Couce Pico, Maria Luz Santer, René Scholl-Bürgi, Sabine Mandel, Hanna Bliksrud, Yngve Thomas Freisinger, Peter Aldamiz-Echevarria, Luis Jose Hochuli, Michel Gautschi, Matthias Endig, Jessica Jordan, Jens McKiernan, Patrick Ernst, Stefanie Morlot, Susanne Vogel, Arndt Sander, Johannes Das, Anibh Martin |
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cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice |
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice |
abstract |
Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations. © Mayorandan et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
abstractGer |
Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations. © Mayorandan et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
abstract_unstemmed |
Background Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Methods Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications. Results Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20–40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations. © Mayorandan et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood). Conclusion Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. 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