Literature DB >> 860124

Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture.

C R Lake, M G Ziegler.   

Abstract

Patients with Lesch-Nyhan syndrome with virtually no hypoxanthine phosphoribosyltransferase activity demonstrate significantly low plasma activity of dopamine-beta-hydroxylase but normal basal levels of norepinephrine. Under conditions of emotional or postural stress the plasma concentrations of norepinephrine in Lesch-Nyhan patients increased less than in a normal population.

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Year:  1977        PMID: 860124     DOI: 10.1126/science.860124

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  2 in total

1.  Sudden death in Lesch-Nyhan disease.

Authors:  Vladimir Kostadinov Neychev; H A Jinnah
Journal:  Dev Med Child Neurol       Date:  2006-11       Impact factor: 5.449

2.  Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.

Authors:  R Curto; E O Voit; M Cascante
Journal:  Biochem J       Date:  1998-02-01       Impact factor: 3.857

  2 in total

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