Document Detail


Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
MedLine Citation:
PMID:  16275037     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
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
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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    
Affiliation:
Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.
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MeSH Terms
Descriptor/Qualifier:
Biopterin / analogs & derivatives*,  blood,  deficiency,  urine
Blood Specimen Collection
Chromatography, High Pressure Liquid
Diagnosis, Differential
Filtration / instrumentation
Humans
Infant, Newborn
Phenylketonurias / blood,  diagnosis*
Pterins / blood*,  urine
Reference Values
Sensitivity and Specificity
Chemical
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


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