Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Mol Genet Metab
; 124(1): 50-56, 2018 05.
Article
em En
| MEDLINE
| ID: mdl-29580649
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⯵mol/L, 1665⯵mol/L and 1110⯵mol/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⯵mol/L blood and 2 group values with mean 8892⯵mol/L blood (SD⯱â¯5243) and 4856⯵mol/L blood (SD⯱â¯461). Dutch newborn screening data of 72,786 newborns from 2007 provided a median TGAL value of 110⯵mol/L blood with a range of 30-2431⯵mol/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⯵mol/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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Triagem Neonatal
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Guias de Prática Clínica como Assunto
/
Galactosemias
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
/
Guideline
/
Observational_studies
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Prognostic_studies
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Risk_factors_studies
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Screening_studies
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Systematic_reviews
Limite:
Humans
/
Newborn
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article