Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia

Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the uri...
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Autor*in:	Bao, Pei-Zhong [verfasserIn] Ye, Jun [verfasserIn] Han, Lian-Shu [verfasserIn] Qiu, Wen-Juan [verfasserIn] Zhang, Hui-Wen [verfasserIn] Yu, Yong-Guo [verfasserIn] Wang, Jian-Guo [verfasserIn] Gu, Xue-Fan [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2018

Schlagwörter:	6-Pyruvoyltetrahydropterin synthase Hyperphenylalaninemia Isoxanthopterin Phenylalanine hydroxylase Pterin

Übergeordnetes Werk:	Enthalten in: World Journal of Pediatrics - Springer-Verlag, 2008, 15(2018), 1 vom: 15. Nov., Seite 66-71
Übergeordnetes Werk:	volume:15 ; year:2018 ; number:1 ; day:15 ; month:11 ; pages:66-71

Links:	Volltext

DOI / URN:	10.1007/s12519-018-0202-2

Katalog-ID:	SPR025997548

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520			\|a Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization.
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allfields	10.1007/s12519-018-0202-2 doi (DE-627)SPR025997548 (SPR)s12519-018-0202-2-e DE-627 ger DE-627 rakwb eng Bao, Pei-Zhong verfasserin aut Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization. 6-Pyruvoyltetrahydropterin synthase (dpeaa)DE-He213 Hyperphenylalaninemia (dpeaa)DE-He213 Isoxanthopterin (dpeaa)DE-He213 Phenylalanine hydroxylase (dpeaa)DE-He213 Pterin (dpeaa)DE-He213 Ye, Jun verfasserin aut Han, Lian-Shu verfasserin aut Qiu, Wen-Juan verfasserin aut Zhang, Hui-Wen verfasserin aut Yu, Yong-Guo verfasserin aut Wang, Jian-Guo verfasserin aut Gu, Xue-Fan verfasserin aut Enthalten in World Journal of Pediatrics Springer-Verlag, 2008 15(2018), 1 vom: 15. Nov., Seite 66-71 (DE-627)SPR02598876X nnns volume:15 year:2018 number:1 day:15 month:11 pages:66-71 https://dx.doi.org/10.1007/s12519-018-0202-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_21 GBV_ILN_31 GBV_ILN_40 GBV_ILN_61 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_66 GBV_ILN_69 GBV_ILN_92 GBV_ILN_135 GBV_ILN_181 GBV_ILN_192 GBV_ILN_211 GBV_ILN_252 AR 15 2018 1 15 11 66-71
spelling	10.1007/s12519-018-0202-2 doi (DE-627)SPR025997548 (SPR)s12519-018-0202-2-e DE-627 ger DE-627 rakwb eng Bao, Pei-Zhong verfasserin aut Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization. 6-Pyruvoyltetrahydropterin synthase (dpeaa)DE-He213 Hyperphenylalaninemia (dpeaa)DE-He213 Isoxanthopterin (dpeaa)DE-He213 Phenylalanine hydroxylase (dpeaa)DE-He213 Pterin (dpeaa)DE-He213 Ye, Jun verfasserin aut Han, Lian-Shu verfasserin aut Qiu, Wen-Juan verfasserin aut Zhang, Hui-Wen verfasserin aut Yu, Yong-Guo verfasserin aut Wang, Jian-Guo verfasserin aut Gu, Xue-Fan verfasserin aut Enthalten in World Journal of Pediatrics Springer-Verlag, 2008 15(2018), 1 vom: 15. Nov., Seite 66-71 (DE-627)SPR02598876X nnns volume:15 year:2018 number:1 day:15 month:11 pages:66-71 https://dx.doi.org/10.1007/s12519-018-0202-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_21 GBV_ILN_31 GBV_ILN_40 GBV_ILN_61 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_66 GBV_ILN_69 GBV_ILN_92 GBV_ILN_135 GBV_ILN_181 GBV_ILN_192 GBV_ILN_211 GBV_ILN_252 AR 15 2018 1 15 11 66-71
allfields_unstemmed	10.1007/s12519-018-0202-2 doi (DE-627)SPR025997548 (SPR)s12519-018-0202-2-e DE-627 ger DE-627 rakwb eng Bao, Pei-Zhong verfasserin aut Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization. 6-Pyruvoyltetrahydropterin synthase (dpeaa)DE-He213 Hyperphenylalaninemia (dpeaa)DE-He213 Isoxanthopterin (dpeaa)DE-He213 Phenylalanine hydroxylase (dpeaa)DE-He213 Pterin (dpeaa)DE-He213 Ye, Jun verfasserin aut Han, Lian-Shu verfasserin aut Qiu, Wen-Juan verfasserin aut Zhang, Hui-Wen verfasserin aut Yu, Yong-Guo verfasserin aut Wang, Jian-Guo verfasserin aut Gu, Xue-Fan verfasserin aut Enthalten in World Journal of Pediatrics Springer-Verlag, 2008 15(2018), 1 vom: 15. Nov., Seite 66-71 (DE-627)SPR02598876X nnns volume:15 year:2018 number:1 day:15 month:11 pages:66-71 https://dx.doi.org/10.1007/s12519-018-0202-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_21 GBV_ILN_31 GBV_ILN_40 GBV_ILN_61 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_66 GBV_ILN_69 GBV_ILN_92 GBV_ILN_135 GBV_ILN_181 GBV_ILN_192 GBV_ILN_211 GBV_ILN_252 AR 15 2018 1 15 11 66-71
allfieldsGer	10.1007/s12519-018-0202-2 doi (DE-627)SPR025997548 (SPR)s12519-018-0202-2-e DE-627 ger DE-627 rakwb eng Bao, Pei-Zhong verfasserin aut Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization. 6-Pyruvoyltetrahydropterin synthase (dpeaa)DE-He213 Hyperphenylalaninemia (dpeaa)DE-He213 Isoxanthopterin (dpeaa)DE-He213 Phenylalanine hydroxylase (dpeaa)DE-He213 Pterin (dpeaa)DE-He213 Ye, Jun verfasserin aut Han, Lian-Shu verfasserin aut Qiu, Wen-Juan verfasserin aut Zhang, Hui-Wen verfasserin aut Yu, Yong-Guo verfasserin aut Wang, Jian-Guo verfasserin aut Gu, Xue-Fan verfasserin aut Enthalten in World Journal of Pediatrics Springer-Verlag, 2008 15(2018), 1 vom: 15. Nov., Seite 66-71 (DE-627)SPR02598876X nnns volume:15 year:2018 number:1 day:15 month:11 pages:66-71 https://dx.doi.org/10.1007/s12519-018-0202-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_21 GBV_ILN_31 GBV_ILN_40 GBV_ILN_61 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_66 GBV_ILN_69 GBV_ILN_92 GBV_ILN_135 GBV_ILN_181 GBV_ILN_192 GBV_ILN_211 GBV_ILN_252 AR 15 2018 1 15 11 66-71
allfieldsSound	10.1007/s12519-018-0202-2 doi (DE-627)SPR025997548 (SPR)s12519-018-0202-2-e DE-627 ger DE-627 rakwb eng Bao, Pei-Zhong verfasserin aut Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization. 6-Pyruvoyltetrahydropterin synthase (dpeaa)DE-He213 Hyperphenylalaninemia (dpeaa)DE-He213 Isoxanthopterin (dpeaa)DE-He213 Phenylalanine hydroxylase (dpeaa)DE-He213 Pterin (dpeaa)DE-He213 Ye, Jun verfasserin aut Han, Lian-Shu verfasserin aut Qiu, Wen-Juan verfasserin aut Zhang, Hui-Wen verfasserin aut Yu, Yong-Guo verfasserin aut Wang, Jian-Guo verfasserin aut Gu, Xue-Fan verfasserin aut Enthalten in World Journal of Pediatrics Springer-Verlag, 2008 15(2018), 1 vom: 15. Nov., Seite 66-71 (DE-627)SPR02598876X nnns volume:15 year:2018 number:1 day:15 month:11 pages:66-71 https://dx.doi.org/10.1007/s12519-018-0202-2 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_21 GBV_ILN_31 GBV_ILN_40 GBV_ILN_61 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_66 GBV_ILN_69 GBV_ILN_92 GBV_ILN_135 GBV_ILN_181 GBV_ILN_192 GBV_ILN_211 GBV_ILN_252 AR 15 2018 1 15 11 66-71
language	English
source	Enthalten in World Journal of Pediatrics 15(2018), 1 vom: 15. Nov., Seite 66-71 volume:15 year:2018 number:1 day:15 month:11 pages:66-71
sourceStr	Enthalten in World Journal of Pediatrics 15(2018), 1 vom: 15. Nov., Seite 66-71 volume:15 year:2018 number:1 day:15 month:11 pages:66-71
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	6-Pyruvoyltetrahydropterin synthase Hyperphenylalaninemia Isoxanthopterin Phenylalanine hydroxylase Pterin
isfreeaccess_bool	false
container_title	World Journal of Pediatrics
authorswithroles_txt_mv	Bao, Pei-Zhong @@aut@@ Ye, Jun @@aut@@ Han, Lian-Shu @@aut@@ Qiu, Wen-Juan @@aut@@ Zhang, Hui-Wen @@aut@@ Yu, Yong-Guo @@aut@@ Wang, Jian-Guo @@aut@@ Gu, Xue-Fan @@aut@@
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Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">6-Pyruvoyltetrahydropterin synthase</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Hyperphenylalaninemia</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Isoxanthopterin</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Phenylalanine hydroxylase</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Pterin</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Ye, Jun</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Han, Lian-Shu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Qiu, Wen-Juan</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Zhang, Hui-Wen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Yu, Yong-Guo</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wang, Jian-Guo</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Gu, Xue-Fan</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">World Journal of Pediatrics</subfield><subfield code="d">Springer-Verlag, 2008</subfield><subfield code="g">15(2018), 1 vom: 15. 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author	Bao, Pei-Zhong
spellingShingle	Bao, Pei-Zhong misc 6-Pyruvoyltetrahydropterin synthase misc Hyperphenylalaninemia misc Isoxanthopterin misc Phenylalanine hydroxylase misc Pterin Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia
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topic_title	Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia 6-Pyruvoyltetrahydropterin synthase (dpeaa)DE-He213 Hyperphenylalaninemia (dpeaa)DE-He213 Isoxanthopterin (dpeaa)DE-He213 Phenylalanine hydroxylase (dpeaa)DE-He213 Pterin (dpeaa)DE-He213
topic	misc 6-Pyruvoyltetrahydropterin synthase misc Hyperphenylalaninemia misc Isoxanthopterin misc Phenylalanine hydroxylase misc Pterin
topic_unstemmed	misc 6-Pyruvoyltetrahydropterin synthase misc Hyperphenylalaninemia misc Isoxanthopterin misc Phenylalanine hydroxylase misc Pterin
topic_browse	misc 6-Pyruvoyltetrahydropterin synthase misc Hyperphenylalaninemia misc Isoxanthopterin misc Phenylalanine hydroxylase misc Pterin
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title	Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia
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title_full	Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia
author_sort	Bao, Pei-Zhong
journal	World Journal of Pediatrics
journalStr	World Journal of Pediatrics
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container_start_page	66
author_browse	Bao, Pei-Zhong Ye, Jun Han, Lian-Shu Qiu, Wen-Juan Zhang, Hui-Wen Yu, Yong-Guo Wang, Jian-Guo Gu, Xue-Fan
container_volume	15
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author-letter	Bao, Pei-Zhong
doi_str_mv	10.1007/s12519-018-0202-2
author2-role	verfasserin
title_sort	application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia
title_auth	Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia
abstract	Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization.
abstractGer	Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization.
abstract_unstemmed	Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis. Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. This approach is worthy of further development and increased utilization.
collection_details	GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_21 GBV_ILN_31 GBV_ILN_40 GBV_ILN_61 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_66 GBV_ILN_69 GBV_ILN_92 GBV_ILN_135 GBV_ILN_181 GBV_ILN_192 GBV_ILN_211 GBV_ILN_252
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title_short	Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia
url	https://dx.doi.org/10.1007/s12519-018-0202-2
remote_bool	true
author2	Ye, Jun Han, Lian-Shu Qiu, Wen-Juan Zhang, Hui-Wen Yu, Yong-Guo Wang, Jian-Guo Gu, Xue-Fan
author2Str	Ye, Jun Han, Lian-Shu Qiu, Wen-Juan Zhang, Hui-Wen Yu, Yong-Guo Wang, Jian-Guo Gu, Xue-Fan
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doi_str	10.1007/s12519-018-0202-2
up_date	2024-07-03T18:14:28.539Z
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Methods We compared the urine neopterin (N), biopterin (B), isoxanthopterin (Iso), B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD, and found the most specific pterin biomarkers by ROC analysis. A positive cut-off value of urine pterins was determined. The effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated, and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were compared. The concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was determined. Results (1) Urinary B, B%, Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01); (2) Iso%, B%, and B were the most specific markers; (3) The positive cut-off values of B, B%, Iso% for PTPSD were < 0.17 mmoL/moLCr, < 5.0%, and < 9.5%, respectively; (4) urinary B + B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional ones. The Iso% levels in FPTPSD group were higher than the ones in PTPSD group; (5) an accuracy of diagnosis for PTPSD was increased by 9–19% when Iso% was introduced to urinary pterin scheme. Conclusions Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of diagnosis. 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