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Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Mol Genet Metab. 2005 Dec; 86 Suppl 1:S96-103.MG

Abstract

Tetrahydrobiopterin (BH4) 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 BH4 deficiencies, and to identify different variants of BH4 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 BH4 deficiencies in urine and for the monitoring of BH4 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.

Authors+Show Affiliations

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16275037

Citation

Zurflüh, Marcel R., et al. "Screening for Tetrahydrobiopterin Deficiencies Using Dried Blood Spots On Filter Paper." Molecular Genetics and Metabolism, vol. 86 Suppl 1, 2005, pp. S96-103.
Zurflüh MR, Giovannini M, Fiori L, et al. Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. Mol Genet Metab. 2005;86 Suppl 1:S96-103.
Zurflüh, M. R., Giovannini, M., Fiori, L., Fiege, B., Gokdemir, Y., Baykal, T., Kierat, L., Gärtner, K. H., Thöny, B., & Blau, N. (2005). Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. Molecular Genetics and Metabolism, 86 Suppl 1, S96-103.
Zurflüh MR, et al. Screening for Tetrahydrobiopterin Deficiencies Using Dried Blood Spots On Filter Paper. Mol Genet Metab. 2005;86 Suppl 1:S96-103. PubMed PMID: 16275037.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. AU - Zurflüh,Marcel R, AU - Giovannini,Marcello, AU - Fiori,Laura, AU - Fiege,Betina, AU - Gokdemir,Yasemin, AU - Baykal,Tolunay, AU - Kierat,Lucja, AU - Gärtner,Konrad H, AU - Thöny,Beat, AU - Blau,Nenad, Y1 - 2005/11/07/ PY - 2005/07/26/received PY - 2005/09/14/revised PY - 2005/09/15/accepted PY - 2005/11/9/pubmed PY - 2006/5/23/medline PY - 2005/11/9/entrez SP - S96 EP - 103 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 86 Suppl 1 N2 - Tetrahydrobiopterin (BH4) 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 BH4 deficiencies, and to identify different variants of BH4 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 BH4 deficiencies in urine and for the monitoring of BH4 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. SN - 1096-7192 UR - https://wwww.unboundmedicine.com/medline/citation/16275037/Screening_for_tetrahydrobiopterin_deficiencies_using_dried_blood_spots_on_filter_paper_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(05)00305-7 DB - PRIME DP - Unbound Medicine ER -