Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

Tetrahydrobiopterin (BH 4) deficiency among newborns with hyperphenylalaninemia must be rapidly diagnosed and distinguished from classical phenylketonuria (PKU) to initiate immediately specific treatment and to prevent irreversible neurological damage. The characteristic pattern of urinary pterins m...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2005-12, Vol.86, p.96-103
Main Authors: Zurflüh, Marcel R., Giovannini, Marcello, Fiori, Laura, Fiege, Betina, Gokdemir, Yasemin, Baykal, Tolunay, Kierat, Lucja, Gärtner, Konrad H., Thöny, Beat, Blau, Nenad
Format: Article
Language:English
Subjects:
Biopterins - analogs & derivatives
Biopterins - blood
Biopterins - deficiency
Biopterins - urine
Blood Specimen Collection
Chromatography, High Pressure Liquid
Diagnosis, Differential
Filtration - instrumentation
Humans
Infant, Newborn
Phenylketonuria
Phenylketonurias - blood
Phenylketonurias - diagnosis
PKU
Pterins - blood
Pterins - urine
Reference Values
Sensitivity and Specificity
Tetrahydrobiopterin
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Summary:Tetrahydrobiopterin (BH 4) deficiency among newborns with hyperphenylalaninemia must be rapidly diagnosed and distinguished from classical phenylketonuria (PKU) to initiate immediately specific treatment and to prevent irreversible neurological damage. The characteristic pattern of urinary pterins makes it possible to differentiate between PKU and BH 4 deficiencies, and to identify different variants of BH 4 deficiency. However, collection, storage, and shipment of urine samples for pterin analysis is cumbersome. A method for the measurement of different pterins (neopterin, biopterin, and pterin) in blood collected on filter paper was developed as a potential alternative to the screening for BH 4 deficiencies in urine and for the monitoring of BH 4 pharmacokinetics. Pterins pattern in blood spots was comparable with those in plasma and urine. We thus established reference values for pterins in blood spots in patients with hyperphenylalaninemia and identified new patients with GTP cyclohydrolase I deficiency, 6-pyruvoyl-tetrahydropterin synthase deficiency, and dihydropteridine reductase deficiency using dried blood spots on filter paper.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2005.09.011