Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
Open Access
- 1 January 1984
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 59 (1), 58-61
- https://doi.org/10.1136/adc.59.1.58
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.This publication has 17 references indexed in Scilit:
- Neopterin and Biopterin Levels in Patients with Atypical Forms of PhenylketonuriaJournal of Neurochemistry, 1980
- ATYPICAL PHENYLKETONURIA CAUSED BY 7, 8-DIHYDROBIOPTERIN SYNTHETASE DEFICIENCYThe Lancet, 1979
- Hyperphenylalaninemia Due to a Deficiency of BiopterinNew England Journal of Medicine, 1978
- Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.Archives of Disease in Childhood, 1976
- Biopterin derivatives in human body fluids and tissues.Journal of Clinical Pathology, 1976
- BIOPTERIN DERIVATIVES IN ATYPICAL PHENYLKETONURIAThe Lancet, 1976
- L-DOPA AND 5-HYDROXYTRYPTOPHAN THERAPY IN PHENYLKETONURIA WITH NORMAL PHENYLALANINE-HYDROXYLASE ACTIVITYThe Lancet, 1975
- Phenylketonuria Due to a Deficiency of Dihydropteridine ReductaseNew England Journal of Medicine, 1975
- NEW VARIANT OF PHENYLKETONURIA WITH PROGRESSIVE NEUROLOGICAL ILLNESS UNRESPONSIVE TO PHENYLALANINE RESTRICTIONThe Lancet, 1975
- Pteridines as cofactor or inhibitor of tyrosine hydroxylaseBiochemical Pharmacology, 1972