Document Detail

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
MedLine Citation:
PMID:  16275037     Owner:  NLM     Status:  MEDLINE    
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.
Marcel R Zurfl?h; Marcello Giovannini; Laura Fiori; Betina Fiege; Yasemin Gokdemir; Tolunay Baykal; Lucja Kierat; Konrad H G?rtner; Beat Th?ny; Nenad Blau
Related Documents :
8912457 - Effect of whole blood storage on factor viii recovery in fresh frozen plasma and cryopr...
21509887 - Suppression of vascular enhancement artifacts through the use of a multiband, selective...
2452857 - Evaluation of maternal serum alpha-foetoprotein assay using dry blood spot samples.
17281917 - A simple method of fabricating weir-type filters with interdigital aligned full-polymer...
3893697 - Quantitative ascending aortic doppler blood velocity in normal human subjects.
3711137 - A model of thrombin inactivation in heparinized and nonheparinized tubes with consequen...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-11-07
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  86 Suppl 1     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-12-12     Completed Date:  2006-05-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  S96-103     Citation Subset:  IM    
Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Biopterin / analogs & derivatives*,  blood,  deficiency,  urine
Blood Specimen Collection
Chromatography, High Pressure Liquid
Diagnosis, Differential
Filtration / instrumentation
Infant, Newborn
Phenylketonurias / blood,  diagnosis*
Pterins / blood*,  urine
Reference Values
Sensitivity and Specificity
Reg. No./Substance:
0/Pterins; 17528-72-2/5,6,7,8-tetrahydrobiopterin; 22150-76-1/Biopterin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Expression in blood cells may contribute to biochemical and pathological improvements after neonatal...
Next Document:  Regulation of post-embryonic neuroblasts by Drosophila Grainyhead.