Literature DB >> 7436521

Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.

F Rey, R J Leeming, J A Blair, J Rey.   

Abstract

A child diagnosed as having transient phenylketonuria was found to have reduced synthesis of tetrahydrobiopterin and an abnormal clearance of phenylalanine, but he remained clinically normal when on a normal diet. A small amount of 7,8-dihydrobiopterin was found in his serum; this distinguishes the case from that of malignant hyperphenylalaninaemia.

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Year:  1980        PMID： 7436521      PMCID： PMC1627059          DOI： 10.1136/adc.55.8.637

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


  11 in total

1.  Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants.

Authors:  F Rey; F Blandin-Savoja; J Rey
Journal:  Pediatr Res       Date:  1979-01       Impact factor: 3.756

2.  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

3.  Hyperphenylalanemia without phenylketonuria.

Authors:  M E O'Flynn; P Tillman; D Y Hsia
Journal:  Am J Dis Child       Date:  1967-01

4.  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

5.  Classic phenylketonuria: diagnosis through heterozygote detection.

Authors:  R F Griffin; L J Elsas
Journal:  J Pediatr       Date:  1975-04       Impact factor: 4.406

6.  Diagnosis of phenylketonuria (phenylalanine hydroxylase deficiency, temporary and permanent).

Authors:  J B Stephenson; M S McBean
Journal:  Br Med J       Date:  1967-09-02

7.  Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria.

Authors:  P Schlesinger; B M Watson; R G Cotton; D M Danks
Journal:  Clin Chim Acta       Date:  1979-03-01       Impact factor: 3.786

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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  8 in total

1.  Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver.

Authors:  A Niederwieser; W Leimbacher; H C Curtius; A Ponzone; F Rey; D Leupold
Journal:  Eur J Pediatr       Date:  1985-05       Impact factor: 3.183

2.  Tetrahydrobiopterin metabolism in senile dementia of Alzheimer type.

Authors:  A A Aziz; R J Leeming; J A Blair
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-05       Impact factor: 10.154

3.  Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.

Authors:  F Güttler; H Lou; C Lykkelund; A Niederwieser
Journal:  Eur J Pediatr       Date:  1984-06       Impact factor: 3.183

4.  Dihydrobiopterin biosynthesis deficiency.

Authors:  J L Dhondt; B Leroux; J P Farriaux; C Largilliere; R J Leeming
Journal:  Eur J Pediatr       Date:  1983-12       Impact factor: 3.183

5.  Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers.

Authors:  H Shintaku; A Niederwieser; W Leimbacher; H C Curtius
Journal:  Eur J Pediatr       Date:  1988-01       Impact factor: 3.183

6.  "Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.

Authors:  A Niederwieser; H Shintaku; W Leimbacher; H C Curtius; J Hyànek; J Zeman; W Endres
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

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

8.  Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine.

Authors:  T Takahashi; S Kodama; H Nishio; T Takumi; T Matsuo; Y Hase; Y Sawada
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  8 in total

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