Neonatal screening for citrullinaemia
Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Sander, Johannes [verfasserIn] Janzen, Nils [verfasserIn] Sander, Stefanie [verfasserIn] Steuerwald, Ulrike [verfasserIn] Das, Anibh M. [verfasserIn] Scholl, Sabine [verfasserIn] K.Trefz, Friedrich [verfasserIn] Koch, Hans-Georg [verfasserIn] Häberle, Johannes [verfasserIn] Korall, Herbert [verfasserIn] Marquardt, Iris [verfasserIn] Korenke, Christoph [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2003 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: European journal of pediatrics - Berlin : Springer Science & Business Media B.V., 1975, 162(2003), 6 vom: 08. Apr., Seite 417-420 |
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| Übergeordnetes Werk: |
volume:162 ; year:2003 ; number:6 ; day:08 ; month:04 ; pages:417-420 |
| Links: |
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| DOI / URN: |
10.1007/s00431-003-1177-z |
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| Katalog-ID: |
SPR005768772 |
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| 520 | |a Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. Conclusion: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms. | ||
| 650 | 4 | |a Citrullinaemia |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Inborn errors of metabolism |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Neonatal screening |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Persistent citrullinaemia |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Tandem mass spectrometry |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Janzen, Nils |e verfasserin |4 aut | |
| 700 | 1 | |a Sander, Stefanie |e verfasserin |4 aut | |
| 700 | 1 | |a Steuerwald, Ulrike |e verfasserin |4 aut | |
| 700 | 1 | |a Das, Anibh M. |e verfasserin |4 aut | |
| 700 | 1 | |a Scholl, Sabine |e verfasserin |4 aut | |
| 700 | 1 | |a K.Trefz, Friedrich |e verfasserin |4 aut | |
| 700 | 1 | |a Koch, Hans-Georg |e verfasserin |4 aut | |
| 700 | 1 | |a Häberle, Johannes |e verfasserin |4 aut | |
| 700 | 1 | |a Korall, Herbert |e verfasserin |4 aut | |
| 700 | 1 | |a Marquardt, Iris |e verfasserin |4 aut | |
| 700 | 1 | |a Korenke, Christoph |e verfasserin |4 aut | |
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10.1007/s00431-003-1177-z doi (DE-627)SPR005768772 (SPR)s00431-003-1177-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Sander, Johannes verfasserin aut Neonatal screening for citrullinaemia 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. Conclusion: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms. Citrullinaemia (dpeaa)DE-He213 Inborn errors of metabolism (dpeaa)DE-He213 Neonatal screening (dpeaa)DE-He213 Persistent citrullinaemia (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Janzen, Nils verfasserin aut Sander, Stefanie verfasserin aut Steuerwald, Ulrike verfasserin aut Das, Anibh M. verfasserin aut Scholl, Sabine verfasserin aut K.Trefz, Friedrich verfasserin aut Koch, Hans-Georg verfasserin aut Häberle, Johannes verfasserin aut Korall, Herbert verfasserin aut Marquardt, Iris verfasserin aut Korenke, Christoph verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 162(2003), 6 vom: 08. Apr., Seite 417-420 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:162 year:2003 number:6 day:08 month:04 pages:417-420 https://dx.doi.org/10.1007/s00431-003-1177-z lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 162 2003 6 08 04 417-420 |
| spelling |
10.1007/s00431-003-1177-z doi (DE-627)SPR005768772 (SPR)s00431-003-1177-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Sander, Johannes verfasserin aut Neonatal screening for citrullinaemia 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. Conclusion: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms. Citrullinaemia (dpeaa)DE-He213 Inborn errors of metabolism (dpeaa)DE-He213 Neonatal screening (dpeaa)DE-He213 Persistent citrullinaemia (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Janzen, Nils verfasserin aut Sander, Stefanie verfasserin aut Steuerwald, Ulrike verfasserin aut Das, Anibh M. verfasserin aut Scholl, Sabine verfasserin aut K.Trefz, Friedrich verfasserin aut Koch, Hans-Georg verfasserin aut Häberle, Johannes verfasserin aut Korall, Herbert verfasserin aut Marquardt, Iris verfasserin aut Korenke, Christoph verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 162(2003), 6 vom: 08. Apr., Seite 417-420 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:162 year:2003 number:6 day:08 month:04 pages:417-420 https://dx.doi.org/10.1007/s00431-003-1177-z lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 162 2003 6 08 04 417-420 |
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10.1007/s00431-003-1177-z doi (DE-627)SPR005768772 (SPR)s00431-003-1177-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Sander, Johannes verfasserin aut Neonatal screening for citrullinaemia 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. Conclusion: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms. Citrullinaemia (dpeaa)DE-He213 Inborn errors of metabolism (dpeaa)DE-He213 Neonatal screening (dpeaa)DE-He213 Persistent citrullinaemia (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Janzen, Nils verfasserin aut Sander, Stefanie verfasserin aut Steuerwald, Ulrike verfasserin aut Das, Anibh M. verfasserin aut Scholl, Sabine verfasserin aut K.Trefz, Friedrich verfasserin aut Koch, Hans-Georg verfasserin aut Häberle, Johannes verfasserin aut Korall, Herbert verfasserin aut Marquardt, Iris verfasserin aut Korenke, Christoph verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 162(2003), 6 vom: 08. Apr., Seite 417-420 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:162 year:2003 number:6 day:08 month:04 pages:417-420 https://dx.doi.org/10.1007/s00431-003-1177-z lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 162 2003 6 08 04 417-420 |
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10.1007/s00431-003-1177-z doi (DE-627)SPR005768772 (SPR)s00431-003-1177-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Sander, Johannes verfasserin aut Neonatal screening for citrullinaemia 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. Conclusion: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms. Citrullinaemia (dpeaa)DE-He213 Inborn errors of metabolism (dpeaa)DE-He213 Neonatal screening (dpeaa)DE-He213 Persistent citrullinaemia (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Janzen, Nils verfasserin aut Sander, Stefanie verfasserin aut Steuerwald, Ulrike verfasserin aut Das, Anibh M. verfasserin aut Scholl, Sabine verfasserin aut K.Trefz, Friedrich verfasserin aut Koch, Hans-Georg verfasserin aut Häberle, Johannes verfasserin aut Korall, Herbert verfasserin aut Marquardt, Iris verfasserin aut Korenke, Christoph verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 162(2003), 6 vom: 08. Apr., Seite 417-420 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:162 year:2003 number:6 day:08 month:04 pages:417-420 https://dx.doi.org/10.1007/s00431-003-1177-z lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 162 2003 6 08 04 417-420 |
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10.1007/s00431-003-1177-z doi (DE-627)SPR005768772 (SPR)s00431-003-1177-z-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl Sander, Johannes verfasserin aut Neonatal screening for citrullinaemia 2003 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. Conclusion: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms. Citrullinaemia (dpeaa)DE-He213 Inborn errors of metabolism (dpeaa)DE-He213 Neonatal screening (dpeaa)DE-He213 Persistent citrullinaemia (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Janzen, Nils verfasserin aut Sander, Stefanie verfasserin aut Steuerwald, Ulrike verfasserin aut Das, Anibh M. verfasserin aut Scholl, Sabine verfasserin aut K.Trefz, Friedrich verfasserin aut Koch, Hans-Georg verfasserin aut Häberle, Johannes verfasserin aut Korall, Herbert verfasserin aut Marquardt, Iris verfasserin aut Korenke, Christoph verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 162(2003), 6 vom: 08. Apr., Seite 417-420 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:162 year:2003 number:6 day:08 month:04 pages:417-420 https://dx.doi.org/10.1007/s00431-003-1177-z lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 162 2003 6 08 04 417-420 |
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Enthalten in European journal of pediatrics 162(2003), 6 vom: 08. Apr., Seite 417-420 volume:162 year:2003 number:6 day:08 month:04 pages:417-420 |
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Enthalten in European journal of pediatrics 162(2003), 6 vom: 08. Apr., Seite 417-420 volume:162 year:2003 number:6 day:08 month:04 pages:417-420 |
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Citrullinaemia Inborn errors of metabolism Neonatal screening Persistent citrullinaemia Tandem mass spectrometry |
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European journal of pediatrics |
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Sander, Johannes @@aut@@ Janzen, Nils @@aut@@ Sander, Stefanie @@aut@@ Steuerwald, Ulrike @@aut@@ Das, Anibh M. @@aut@@ Scholl, Sabine @@aut@@ K.Trefz, Friedrich @@aut@@ Koch, Hans-Georg @@aut@@ Häberle, Johannes @@aut@@ Korall, Herbert @@aut@@ Marquardt, Iris @@aut@@ Korenke, Christoph @@aut@@ |
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2003-04-08T00:00:00Z |
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Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. 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Sander, Johannes |
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Sander, Johannes ddc 610 bkl 44.67 misc Citrullinaemia misc Inborn errors of metabolism misc Neonatal screening misc Persistent citrullinaemia misc Tandem mass spectrometry Neonatal screening for citrullinaemia |
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610 ASE 44.67 bkl Neonatal screening for citrullinaemia Citrullinaemia (dpeaa)DE-He213 Inborn errors of metabolism (dpeaa)DE-He213 Neonatal screening (dpeaa)DE-He213 Persistent citrullinaemia (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 |
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ddc 610 bkl 44.67 misc Citrullinaemia misc Inborn errors of metabolism misc Neonatal screening misc Persistent citrullinaemia misc Tandem mass spectrometry |
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ddc 610 bkl 44.67 misc Citrullinaemia misc Inborn errors of metabolism misc Neonatal screening misc Persistent citrullinaemia misc Tandem mass spectrometry |
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Neonatal screening for citrullinaemia |
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Neonatal screening for citrullinaemia |
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Sander, Johannes |
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European journal of pediatrics |
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European journal of pediatrics |
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Sander, Johannes Janzen, Nils Sander, Stefanie Steuerwald, Ulrike Das, Anibh M. Scholl, Sabine K.Trefz, Friedrich Koch, Hans-Georg Häberle, Johannes Korall, Herbert Marquardt, Iris Korenke, Christoph |
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Sander, Johannes |
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10.1007/s00431-003-1177-z |
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neonatal screening for citrullinaemia |
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Neonatal screening for citrullinaemia |
| abstract |
Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. Conclusion: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms. |
| abstractGer |
Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. Conclusion: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms. |
| abstract_unstemmed |
Abstract In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.5 µmol/l, not corrected for recovery) was identified in 15 newborns. Four children were diagnosed with classical neonatal onset citrullinaemia and eight with persisting asymptomatic hypercitrullinaemia. In two asymptomatic newborns and in one symptomatic preterm patient, argininosuccinate lyase deficiency was identified as the cause of moderately elevated levels of citrulline (cases not described in this paper). Citrulline concentrations were only temporarily mildly elevated in two newborns and in these the results of the original neonatal screening were therefore regarded as false-positive; we did not find any other false-positives. The screening result allowed the introduction of immediate specific treatment in two cases of citrullinaemia and may have prevented metabolic decompensation in those with presumed mild citrullinaemia. In one child who developed severe hyperammonaemia on the 2nd day of life, sequelae could not be avoided. Conclusion: neonatal screening for citrullinaemia is more complex than expected and, with the actual logistics, results may be obtained too late in severe forms. |
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Neonatal screening for citrullinaemia |
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Janzen, Nils Sander, Stefanie Steuerwald, Ulrike Das, Anibh M. Scholl, Sabine K.Trefz, Friedrich Koch, Hans-Georg Häberle, Johannes Korall, Herbert Marquardt, Iris Korenke, Christoph |
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Janzen, Nils Sander, Stefanie Steuerwald, Ulrike Das, Anibh M. Scholl, Sabine K.Trefz, Friedrich Koch, Hans-Georg Häberle, Johannes Korall, Herbert Marquardt, Iris Korenke, Christoph |
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| score |
7.398695 |