Literature DB >> 3939529

Hyperphenylalaninaemia due to impaired dihydrobiopterin biosynthesis: leukocyte function and effect of tetrahydrobiopterin therapy.

K Fukuda, T Tanaka, S Hyodo, Y Kobayashi, T Usui.   

Abstract

We have described the clinical and biochemical status of two patients with tetrahydrobiopterin (BH4) deficiency due to impaired dihydrobiopterin biosynthesis. BH4 administration appeared to improve the mental and psychological status more than did neurotransmitter replacement therapy alone. This enhancement of activities of daily life was seen with a dose of BH4 as low as 1.25 mg kg-1 day-1. Granulocyte adherence capacity was below normal and recovered after BH4 therapy in both patients. B-cell differentiation capacity was altered either before or after therapy.

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Year:  1985        PMID： 3939529     DOI： 10.1007/bf01801661

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


  15 in total

1.  Malignant hyperphenylalaninaemia--current status (June 1977).

Authors:  D M Danks; K Bartholomé; B E Clayton; H Curtius; H Gröbe; S Kaufman; R Leeming; W Pfleiderer; H Rembold; F Rey
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Opsonic activity of cord serum - an evaluation based on determination of oxygen consumption by leukocytes.

Authors:  Y Kobayashi; T Usui
Journal:  Pediatr Res       Date:  1982-03       Impact factor: 3.756

3.  Free amino acid concentrations in plasma, erythrocytes, granulocytes, and lymphocytes in umbilical cord blood, children, and adults.

Authors:  K Fukuda; Y Nishi; T Usui
Journal:  J Pediatr Gastroenterol Nutr       Date:  1984-06       Impact factor: 2.839

4.  Enhancement of human neutrophil oxygen consumption by chemotactic factors.

Authors:  A Tanabe; Y Kobayashi; T Usui
Journal:  Experientia       Date:  1983-06-15

5.  Letter: A new molecular defect in phenylketonuria.

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

6.  Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis.

Authors:  T Tanaka; K Aihara; K Iwai; M Kohashi; K Tomita; K Narisawa; N Arai; H Yoshida; T Usui
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

7.  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

8.  In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood.

Authors:  P G Quie; J G White; B Holmes; R A Good
Journal:  J Clin Invest       Date:  1967-04       Impact factor: 14.808

9.  Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.

Authors:  S Milstien; N A Holtzman; M E O'Flynn; G H Thomas; I J Butler; S Kaufman
Journal:  J Pediatr       Date:  1976-11       Impact factor: 4.406

10.  Impaired PWM-induced polyclonal B-cell activation in patients with malignancies treated with various intermittent combination chemotherapies including doxorubicin.

Authors:  N Horino
Journal:  Cancer       Date:  1982-08-15       Impact factor: 6.860
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  1 in total

1.  Successful long term therapy of biopterin deficiency.

Authors:  S E Snyderman; C Sansaricq; M T Pulmones
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982
  1 in total

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