Document Detail

Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
MedLine Citation:
PMID:  6696496     Owner:  NLM     Status:  MEDLINE    
We describe a method of screening for dihydropteridine reductase deficiency and dihydrobiopterin synthesis deficiency--the two inherited defects that cause tetrahydrobiopterin deficiency--using blood spots on Guthrie cards. Dihydropteridine reductase deficiency may be identified positively, and a biopterin value of less than 6.0 micrograms/l in the presence of hyperphenylalaninaemia indicates further investigation for dihydrobiopterin synthesis deficiency.
R J Leeming; P A Barford; J A Blair; I Smith
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Archives of disease in childhood     Volume:  59     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  1984 Jan 
Date Detail:
Created Date:  1984-03-08     Completed Date:  1984-03-08     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  58-61     Citation Subset:  AIM; IM    
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MeSH Terms
Biopterin / analogs & derivatives,  biosynthesis,  blood,  deficiency*
Child, Preschool
Dihydropteridine Reductase / blood
Infant, Newborn
Phenylalanine / blood*
Pteridines / deficiency*
Specimen Handling
Reg. No./Substance:
0/Pteridines; 17528-72-2/5,6,7,8-tetrahydrobiopterin; 22150-76-1/Biopterin; 63-91-2/Phenylalanine; 6779-87-9/7,8-dihydrobiopterin; EC Reductase

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

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