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The cost-effectiveness of neonatal population screening on medium-chain acyl-CoA dehydrogenase deficiency by tandem mass spectrometry. An empirical, prospective study in the north-eastern region of the Netherlands.

Projectomschrijving

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Hereditable defects in fat oxidation bring about life-threatening periods of very low blood glucose levels which occur suddenly in apparently healthy children. These periods result in high mortality and high risk of chronic disabilities. Prevention is effective by prescribing frequent carbohydrate-enriched meals. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most frequent defect with a prevalence of 1:12.000 births (16 children/yr). Persons with MCADD can be detected by screening of heel puncture blood spots with tandem mass spectometry. In this project a large-scale prospective screening of MCADD in the northern region of The Netherlands is combined with a retrospective study of the hospital files of persons with MCADD. The costs of screening can then be related to the benefits of prevention the sequela of this disease. The project will result in a decision on extending the current screening program of PKU/CHT with MCADD.

Onderwerpen

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Projectnummer:
22000069
Looptijd: 100%
Looptijd: 100 %
2002
2005
Onderdeel van programma:
Projectleider en penvoerder:
Prof. dr. G.P.A. Smit
Verantwoordelijke organisatie:
Universitair Medisch Centrum Groningen