Literature DB >> 6696496

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.   

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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Year:  1984        PMID： 6696496      PMCID： PMC1628398          DOI： 10.1136/adc.59.1.58

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  15 in total

1.  Phenylketonuria due to a deficiency of dihydropteridine reductase.

Authors:  S Kaufman; N A Holtzman; S Milstien; L J Butler; A Krumholz
Journal:  N Engl J Med       Date:  1975-10-16       Impact factor: 91.245

2.  Biopterin derivatives in human body fluids and tissues.

Authors:  R J Leeming; J A Blair; V Melikian; D J O'Gorman
Journal:  J Clin Pathol       Date:  1976-05       Impact factor: 3.411

3.  Pteridines as cofactor or inhibitor of tyrosine hydroxylase.

Authors:  T Nagatsu; K Mizutani; I Nagatsu; S Matsuura; T Sugimoto
Journal:  Biochem Pharmacol       Date:  1972-07-15       Impact factor: 5.858

4.  Studies in histochemistry. LXXIX. Properties of tryptophan hydroxylase from neoplastic murine mast cells.

Authors:  S Hosoda; D Glick
Journal:  J Biol Chem       Date:  1966-01-10       Impact factor: 5.157

5.  Letter: Biopterin derivatives in atypical phenylketonuria.

Authors:  R J Leeming; J A Blair; F Rey
Journal:  Lancet       Date:  1976-01-10       Impact factor: 79.321

6.  Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity.

Authors:  K Bartholomé; D J Byrd
Journal:  Lancet       Date:  1975-11-22       Impact factor: 79.321

7.  Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.

Authors:  R J Leeming; J A Blair; A Green; D N Raine
Journal:  Arch Dis Child       Date:  1976-10       Impact factor: 3.791

8.  Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.

Authors:  A Niederwieser; H C Curtius; O Bettoni; J Bieri; B Schircks; M Viscontini; J Schaub
Journal:  Lancet       Date:  1979-01-20       Impact factor: 79.321

9.  New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.

Authors:  I Smith; B E Clayton; O H Wolff
Journal:  Lancet       Date:  1975-05-17       Impact factor: 79.321

10.  Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.

Authors:  S Kaufman; S Berlow; G K Summer; S Milstien; J D Schulman; S Orloff; S Spielberg; S Pueschel
Journal:  N Engl J Med       Date:  1978-09-28       Impact factor: 91.245
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  16 in total

1.  Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper.

Authors:  N Blau; L Kierat; C W Heizmann; W Endres; T Giudici; M Wang
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Relationship between plasma and red cell biopterins in acute and chronic hyperphenylalaninaemia.

Authors:  R J Leeming; S K Hall; I M Surplice; A Green
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Defective biopterin synthesis and birth weight.

Authors:  I Smith
Journal:  Eur J Pediatr       Date:  1988-01       Impact factor: 3.183

4.  Dihydropteridine reductase activity in eluates from dried blood spots: automation of an assay for a national screening service.

Authors:  I M Surplice; P D Griffiths; A Green; R J Leeming
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

5.  Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.

Authors:  K Hyland; I Smith; J V Leonard
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-02       Impact factor: 10.154

6.  Neonatal screening for dihydropteridine reductase deficiency.

Authors:  A Sahota; J A Blair; P A Barford; R J Leeming; A Green; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

7.  Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases.

Authors:  R Longhi; E Riva; R Valsasina; S Paccanelli; M Giovannini
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

8.  Neuroblastoma in a patient with dihydropteridine reductase deficiency.

Authors:  L G Greeves; R J Leeming; K Hyland; S I Dempsey; D J Carson
Journal:  Eur J Pediatr       Date:  1990-07       Impact factor: 3.183

9.  A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.

Authors:  M Weinstein; R C Eisensmith; V Abadie; S Avigad; S Lyonnet; G Schwartz; A Munnich; S L Woo; Y Shiloh
Journal:  Hum Genet       Date:  1993-02       Impact factor: 4.132

Review 10.  Pteridines and mono-amines: relevance to neurological damage.

Authors:  I Smith; D W Howells; K Hyland
Journal:  Postgrad Med J       Date:  1986-02       Impact factor: 2.401
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