Literature DB >> 6434829

Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.

A Lipson, J Yu, M O'Halloran, M Potter, B Wilken.   

Abstract

In a child with dihydropteridine reductase deficiency (McKusick 26163) none of four separate oral tetrahydrobiopterin loading tests resulted in a decrease of the serum phenylalanine concentration. This test cannot be recommended for screening hyperphenylalaninaemic patients for dihydropteridine reductase deficiency.

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Year:  1984        PMID： 6434829     DOI： 10.1007/bf01805806

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


  14 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.  Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells.

Authors:  F A Firgaira; R G Cotton; D M Danks
Journal:  Lancet       Date:  1980-01-19       Impact factor: 79.321

3.  Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia.

Authors:  F A Firgaira; R G Cotton; D M Danks; K Fowler; A Lipson; J S Yu
Journal:  Prenat Diagn       Date:  1983-01       Impact factor: 3.050

4.  Letter: A new molecular defect in phenylketonuria.

Authors:  K Bartholome
Journal:  Lancet       Date:  1974-12-28       Impact factor: 79.321

5.  Differential diagnosis of variant forms of hyperphenylalaninemia.

Authors:  S Kaufman
Journal:  Pediatrics       Date:  1980-04       Impact factor: 7.124

6.  Phenylketonuria: epitome of human biochemical genetics (second of two parts).

Authors:  C R Scriver; C L Clow
Journal:  N Engl J Med       Date:  1980-12-11       Impact factor: 91.245

7.  Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.

Authors:  J L Dhondt; J P Farriaux; C Largilliere; M Dautrevaux; P Ardouin
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

8.  Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia).

Authors:  D M Danks; R G Cotton
Journal:  J Pediatr       Date:  1980-05       Impact factor: 4.406

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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  4 in total

1.  Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.

Authors:  R G Cotton; I Jennings; G Bracco; A Ponzone; O Guardamagna
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns.

Authors:  A H Lipson; J W Earl; B Wilcken; J S Yu; M O'Halloran; R G Cotton
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Two mutations of dihydropteridine reductase deficiency.

Authors:  A Ponzone; O Guardamagna; S Ferraris; G Bracco; A Niederwieser; R G Cotton
Journal:  Arch Dis Child       Date:  1988-02       Impact factor: 3.791

Review 4.  Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future.

Authors:  Sabine Jung-Klawitter; Oya Kuseyri Hübschmann
Journal:  Cells       Date:  2019-08-09       Impact factor: 6.600
  4 in total

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