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Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Mol Genet Metab. 2018 05; 124(1):50-56.MG

Abstract

INTRODUCTION

Galactokinase (GALK) deficiency causes cataract leading to severe developmental consequences unless treated early. Because of the easy prevention and rapid reversibility of cataract with treatment, the Dutch Health Council advised to include GALK deficiency in the Dutch newborn screening program. The aim of this study is to establish the optimal screening method and cut-off value (COV) for GALK deficiency screening by performing a systematic review of the literature of screening strategies and total galactose (TGAL) values and by evaluating TGAL values in the first week of life in a cohort of screened newborns in the Netherlands.

METHODS

Systematic literature search strategies in OVID MEDLINE and OVID EMBASE were developed and study selection, data collection and analyses were performed by two independent investigators. A range of TGAL values measured by the Quantase Neonatal Total Galactose screening assay in a cohort of Dutch newborns in 2007 was evaluated.

RESULTS

Eight publications were included in the systematic review. All four studies describing screening strategies used TGAL as the primary screening marker combined with galactose-1-phosphate uridyltransferase (GALT) measurement that is used for classical galactosemia screening. TGAL COVs of 2200 μmol/L, 1665 μmol/L and 1110 μmol/L blood resulted in positive predictive values (PPV) of 100%, 82% and 10% respectively. TGAL values measured in the newborn period were reported for 39 GALK deficiency patients with individual values ranging from 3963 to 8159 μmol/L blood and 2 group values with mean 8892 μmol/L blood (SD ± 5243) and 4856 μmol/L blood (SD ± 461). Dutch newborn screening data of 72,786 newborns from 2007 provided a median TGAL value of 110 μmol/L blood with a range of 30-2431 μmol/L blood.

CONCLUSION

Based on TGAL values measured in GALK deficiency patients reported in the literature and TGAL measurements in the Dutch cohort by newborn screening we suggest to perform the GALK screening with TGAL as a primary marker with a COV of 2500 μmol/L blood, combined with GALT enzyme activity measurement as used in the classical galactosemia screening, to ensure detection of GALK deficiency patients and minimize false positive referrals.

Authors+Show Affiliations

Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: k.stroek@amc.uva.nl.Reference Laboratory for Neonatal Screening, Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands. Electronic address: marelle.bouva@rivm.nl.Reference Laboratory for Neonatal Screening, Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands. Electronic address: peter.schielen@rivm.nl.Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: f.m.vaz@amc.uva.nl.Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Clinical Chemistry, Endocrine Laboratory, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: a.c.heijboer@amc.uva.nl.Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: r.jonge@amc.uva.nl.Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: a.boelen@amc.uva.nl.Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: a.m.bosch@amc.uva.nl.

Pub Type(s)

Evaluation Study
Journal Article
Systematic Review

Language

eng

PubMed ID

29580649

Citation

Stroek, Kevin, et al. "Recommendations for Newborn Screening for Galactokinase Deficiency: a Systematic Review and Evaluation of Dutch Newborn Screening Data." Molecular Genetics and Metabolism, vol. 124, no. 1, 2018, pp. 50-56.
Stroek K, Bouva MJ, Schielen PCJI, et al. Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data. Mol Genet Metab. 2018;124(1):50-56.
Stroek, K., Bouva, M. J., Schielen, P. C. J. I., Vaz, F. M., Heijboer, A. C., de Jonge, R., Boelen, A., & Bosch, A. M. (2018). Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data. Molecular Genetics and Metabolism, 124(1), 50-56. https://doi.org/10.1016/j.ymgme.2018.03.008
Stroek K, et al. Recommendations for Newborn Screening for Galactokinase Deficiency: a Systematic Review and Evaluation of Dutch Newborn Screening Data. Mol Genet Metab. 2018;124(1):50-56. PubMed PMID: 29580649.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data. AU - Stroek,Kevin, AU - Bouva,Marelle J, AU - Schielen,Peter C J I, AU - Vaz,Frédéric M, AU - Heijboer,Annemieke C, AU - de Jonge,Robert, AU - Boelen,Anita, AU - Bosch,Annet M, Y1 - 2018/03/21/ PY - 2018/02/15/received PY - 2018/03/19/revised PY - 2018/03/19/accepted PY - 2018/3/28/pubmed PY - 2019/4/5/medline PY - 2018/3/28/entrez KW - Galactokinase deficiency KW - Newborn screening KW - Positive predictive value KW - Total galactose SP - 50 EP - 56 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 124 IS - 1 N2 - INTRODUCTION: Galactokinase (GALK) deficiency causes cataract leading to severe developmental consequences unless treated early. Because of the easy prevention and rapid reversibility of cataract with treatment, the Dutch Health Council advised to include GALK deficiency in the Dutch newborn screening program. The aim of this study is to establish the optimal screening method and cut-off value (COV) for GALK deficiency screening by performing a systematic review of the literature of screening strategies and total galactose (TGAL) values and by evaluating TGAL values in the first week of life in a cohort of screened newborns in the Netherlands. METHODS: Systematic literature search strategies in OVID MEDLINE and OVID EMBASE were developed and study selection, data collection and analyses were performed by two independent investigators. A range of TGAL values measured by the Quantase Neonatal Total Galactose screening assay in a cohort of Dutch newborns in 2007 was evaluated. RESULTS: Eight publications were included in the systematic review. All four studies describing screening strategies used TGAL as the primary screening marker combined with galactose-1-phosphate uridyltransferase (GALT) measurement that is used for classical galactosemia screening. TGAL COVs of 2200 μmol/L, 1665 μmol/L and 1110 μmol/L blood resulted in positive predictive values (PPV) of 100%, 82% and 10% respectively. TGAL values measured in the newborn period were reported for 39 GALK deficiency patients with individual values ranging from 3963 to 8159 μmol/L blood and 2 group values with mean 8892 μmol/L blood (SD ± 5243) and 4856 μmol/L blood (SD ± 461). Dutch newborn screening data of 72,786 newborns from 2007 provided a median TGAL value of 110 μmol/L blood with a range of 30-2431 μmol/L blood. CONCLUSION: Based on TGAL values measured in GALK deficiency patients reported in the literature and TGAL measurements in the Dutch cohort by newborn screening we suggest to perform the GALK screening with TGAL as a primary marker with a COV of 2500 μmol/L blood, combined with GALT enzyme activity measurement as used in the classical galactosemia screening, to ensure detection of GALK deficiency patients and minimize false positive referrals. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/29580649/Recommendations_for_newborn_screening_for_galactokinase_deficiency:_A_systematic_review_and_evaluation_of_Dutch_newborn_screening_data_ DB - PRIME DP - Unbound Medicine ER -