Literature DB >> 2116547

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

I M Surplice1, P D Griffiths, A Green, R J Leeming.   

Abstract

We describe the automation, using a Cobas Bio centrifugal analyser, of a method for dihydropteridine reductase (DHPR) assay in eluates from dried blood spots. This is used as part of a routine screening service of neonates with hyperphenylalaninaemia in the United Kingdom. Automation reduced reagent volumes and analysis time by about 80% and improved the precision of the assay. Relating DHPR activity to haemoglobin concentration of the eluate further improved the precision of the assay and removed some differences in 'apparent' DHPR activity between samples from different countries and different age groups.

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Year:  1990        PMID： 2116547     DOI： 10.1007/bf01799682

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

Review 1.  Inborn errors of pterin metabolism.

Authors:  N Blau
Journal:  Annu Rev Nutr       Date:  1988       Impact factor: 11.848

2.  [Measurement in samples of dry blood of dihydropteridine reductase and ratio of total biopterin in hyperphenylalaninemia and other neurological diseases].

Authors:  R J Leeming; A R Karim; A S Sahota; J A Blair; A Green
Journal:  Arch Fr Pediatr       Date:  1987

Review 3.  Determination of hemoglobin and its derivatives.

Authors:  E J Van Kampen; W G Zijlstra
Journal:  Adv Clin Chem       Date:  1965       Impact factor: 5.394

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

Authors:  R J Leeming; P A Barford; J A Blair; I Smith
Journal:  Arch Dis Child       Date:  1984-01       Impact factor: 3.791

5.  Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.

Authors:  N Arai; K Narisawa; H Hayakawa; K Tada
Journal:  Pediatrics       Date:  1982-09       Impact factor: 7.124

6.  Routine neonatal screening for phenylketonuria in the United Kingdom 1964-78. Medical Research Council Steering Committee for the MRC/DHSS Phenylketonuria Register.

Authors: 
Journal:  Br Med J (Clin Res Ed)       Date:  1981-05-23

7.  Differential diagnosis of tetrahydrobiopterin deficiency.

Authors:  A Niederwieser; A Ponzone; H C Curtius
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  7 in total
  3 in total

1.  Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots.

Authors:  Dae-Hyun Ko; Sun-Hee Jun; Kyoung Un Park; Sang Hoon Song; Jin Q Kim; Junghan Song
Journal:  J Inherit Metab Dis       Date:  2011-02-22       Impact factor: 4.982

2.  Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Authors:  L J Spaapen; J A Bakker; C Velter; W Loots; M E Rubio-Gozalbo; P P Forget; L Dorland; T J De Koning; B T Poll-The; H K Ploos van Amstel; J Bekhof; N Blau; M Duran; M E Rubio-Gonzalbo
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

3.  Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience.

Authors:  J L Dhondt
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  3 in total

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