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Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria

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Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria : Systematical Evaluation of a Two-Tier Strategy. / Okun, Jürgen G; Gan-Schreier, Hongying; Ben-Omran, Tawfeq; Schmidt, Kathrin V; Fang-Hoffmann, Junmin; Gramer, Gwendolyn; Abdoh, Ghassan; Shahbeck, Noora; Al Rifai, Hilal; Al Khal, Abdul Latif; Haege, Gisela; Chiang, Chuan-Chi; Kasper, David C; Wilcken, Bridget; Burgard, Peter; Hoffmann, Georg F.

In: JIMD reports, Vol. 32, 2017, p. 87-94.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Okun, JG, Gan-Schreier, H, Ben-Omran, T, Schmidt, KV, Fang-Hoffmann, J, Gramer, G, Abdoh, G, Shahbeck, N, Al Rifai, H, Al Khal, AL, Haege, G, Chiang, C-C, Kasper, DC, Wilcken, B, Burgard, P & Hoffmann, GF 2017, 'Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy', JIMD reports, vol. 32, pp. 87-94. https://doi.org/10.1007/8904_2016_556

APA

Okun, J. G., Gan-Schreier, H., Ben-Omran, T., Schmidt, K. V., Fang-Hoffmann, J., Gramer, G., Abdoh, G., Shahbeck, N., Al Rifai, H., Al Khal, A. L., Haege, G., Chiang, C-C., Kasper, D. C., Wilcken, B., Burgard, P., & Hoffmann, G. F. (2017). Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy. JIMD reports, 32, 87-94. https://doi.org/10.1007/8904_2016_556

Vancouver

Okun JG, Gan-Schreier H, Ben-Omran T, Schmidt KV, Fang-Hoffmann J, Gramer G et al. Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy. JIMD reports. 2017;32:87-94. https://doi.org/10.1007/8904_2016_556

Bibtex

@article{bffdfd72f5b04776b009693332c67d49,
title = "Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy",
abstract = "BACKGROUND: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening.METHODS: We reevaluated data from our newborn screening programme for Qatar in a total number of 125,047 neonates including 30 confirmed HCU patients. Our hitherto existing screening strategy includes homocysteine (Hcy) measurements in every child, resulting in a unique dataset for evaluation of two-tier strategies. Reevaluation included methionine (Met) levels, Met to phenylalanine (Phe) ratio, and Hcy. Four HCU cases identified after database closure were also included in the evaluation. In addition, dried blood spot samples selected by Met values >P97 in the newborn screening programs in Austria, Australia, the Netherlands, and Taiwan were analyzed for Hcy.RESULTS: Met to Phe ratio was found to be more effective for first sieve than Met, sorting out nearly 90% of normal samples. Only 10% of the samples would have to be processed by second-tier measurement of Hcy in dried blood spots. As no patient with HCU was found neither in the samples investigated for HCU, nor by clinical diagnosis in the other countries, the generalization of our two-tier strategy could only be tested indirectly.CONCLUSION: The finally derived two-tier algorithm using Met to Phe ratio as first- and Hcy as second-tier requires 10% first-tier positives to be transferred to Hcy measurement, resulting in 100% sensitivity and specificity in HCU newborn screening.",
author = "Okun, {J{\"u}rgen G} and Hongying Gan-Schreier and Tawfeq Ben-Omran and Schmidt, {Kathrin V} and Junmin Fang-Hoffmann and Gwendolyn Gramer and Ghassan Abdoh and Noora Shahbeck and {Al Rifai}, Hilal and {Al Khal}, {Abdul Latif} and Gisela Haege and Chuan-Chi Chiang and Kasper, {David C} and Bridget Wilcken and Peter Burgard and Hoffmann, {Georg F}",
year = "2017",
doi = "10.1007/8904_2016_556",
language = "English",
volume = "32",
pages = "87--94",
journal = "JIMD reports",
issn = "2192-8304",
publisher = "Springer",

}

RIS

TY - JOUR

T1 - Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria

T2 - Systematical Evaluation of a Two-Tier Strategy

AU - Okun, Jürgen G

AU - Gan-Schreier, Hongying

AU - Ben-Omran, Tawfeq

AU - Schmidt, Kathrin V

AU - Fang-Hoffmann, Junmin

AU - Gramer, Gwendolyn

AU - Abdoh, Ghassan

AU - Shahbeck, Noora

AU - Al Rifai, Hilal

AU - Al Khal, Abdul Latif

AU - Haege, Gisela

AU - Chiang, Chuan-Chi

AU - Kasper, David C

AU - Wilcken, Bridget

AU - Burgard, Peter

AU - Hoffmann, Georg F

PY - 2017

Y1 - 2017

N2 - BACKGROUND: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening.METHODS: We reevaluated data from our newborn screening programme for Qatar in a total number of 125,047 neonates including 30 confirmed HCU patients. Our hitherto existing screening strategy includes homocysteine (Hcy) measurements in every child, resulting in a unique dataset for evaluation of two-tier strategies. Reevaluation included methionine (Met) levels, Met to phenylalanine (Phe) ratio, and Hcy. Four HCU cases identified after database closure were also included in the evaluation. In addition, dried blood spot samples selected by Met values >P97 in the newborn screening programs in Austria, Australia, the Netherlands, and Taiwan were analyzed for Hcy.RESULTS: Met to Phe ratio was found to be more effective for first sieve than Met, sorting out nearly 90% of normal samples. Only 10% of the samples would have to be processed by second-tier measurement of Hcy in dried blood spots. As no patient with HCU was found neither in the samples investigated for HCU, nor by clinical diagnosis in the other countries, the generalization of our two-tier strategy could only be tested indirectly.CONCLUSION: The finally derived two-tier algorithm using Met to Phe ratio as first- and Hcy as second-tier requires 10% first-tier positives to be transferred to Hcy measurement, resulting in 100% sensitivity and specificity in HCU newborn screening.

AB - BACKGROUND: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening.METHODS: We reevaluated data from our newborn screening programme for Qatar in a total number of 125,047 neonates including 30 confirmed HCU patients. Our hitherto existing screening strategy includes homocysteine (Hcy) measurements in every child, resulting in a unique dataset for evaluation of two-tier strategies. Reevaluation included methionine (Met) levels, Met to phenylalanine (Phe) ratio, and Hcy. Four HCU cases identified after database closure were also included in the evaluation. In addition, dried blood spot samples selected by Met values >P97 in the newborn screening programs in Austria, Australia, the Netherlands, and Taiwan were analyzed for Hcy.RESULTS: Met to Phe ratio was found to be more effective for first sieve than Met, sorting out nearly 90% of normal samples. Only 10% of the samples would have to be processed by second-tier measurement of Hcy in dried blood spots. As no patient with HCU was found neither in the samples investigated for HCU, nor by clinical diagnosis in the other countries, the generalization of our two-tier strategy could only be tested indirectly.CONCLUSION: The finally derived two-tier algorithm using Met to Phe ratio as first- and Hcy as second-tier requires 10% first-tier positives to be transferred to Hcy measurement, resulting in 100% sensitivity and specificity in HCU newborn screening.

U2 - 10.1007/8904_2016_556

DO - 10.1007/8904_2016_556

M3 - SCORING: Journal article

C2 - 27325427

VL - 32

SP - 87

EP - 94

JO - JIMD reports

JF - JIMD reports

SN - 2192-8304

ER -