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. 1984 Jan;59(1):58-61.
doi: 10.1136/adc.59.1.58.

Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants

R J Leeming, P A Barford, J A Blair, I Smith

Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants

R J Leeming et al. Arch Dis Child. 1984 Jan.

Abstract

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.

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