WILSON’S DISEASE

A disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13. The concentration of the copper transport protein ceruloplasmin is abnormally low and, as a result, the serum free co...

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Main Authors: A. Hancu, C. Mihai, D. Zguma, A. Docu Axelerad, E. Dumitru, M. Kaivanifard
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2011-09-01
Series:Romanian Journal of Neurology
Subjects:
Online Access:https://revistemedicale.amaltea.ro/Romanian_Journal_of_NEUROLOGY/Revista_Romana_de_NEUROLOGIE-2011-Nr.3/RJN_2011_3_Art-08.pdf
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spelling doaj-32ff808d01cf46bfa35811eaa8ae5dae2020-11-25T01:47:55ZengAmaltea Medical Publishing HouseRomanian Journal of Neurology1843-81482069-60942011-09-0110314815310.37897/RJN.2011.3.8WILSON’S DISEASEA. Hancu0 C. Mihai1D. Zguma2A. Docu Axelerad3E. Dumitru4M. Kaivanifard5Neurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaA disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13. The concentration of the copper transport protein ceruloplasmin is abnormally low and, as a result, the serum free copper concentration is high and an abnormally large amount of copper is eliminated in the urine. Free copper is deposited in the liver, the edge of the cornea, the brain. We present a case who debuted by tremors and thrombocytopenia. Continuous therapy with Trientine hydrochloride and Mega zinc, and elimination of copper rich foods were improved cognitive, behavioral and motor dysfunctions.https://revistemedicale.amaltea.ro/Romanian_Journal_of_NEUROLOGY/Revista_Romana_de_NEUROLOGIE-2011-Nr.3/RJN_2011_3_Art-08.pdfwilson’s disease (wd)treatmentglobal assessment scale for wd (gas for wd)
collection DOAJ
language English
format Article
sources DOAJ
author A. Hancu
C. Mihai
D. Zguma
A. Docu Axelerad
E. Dumitru
M. Kaivanifard
spellingShingle A. Hancu
C. Mihai
D. Zguma
A. Docu Axelerad
E. Dumitru
M. Kaivanifard
WILSON’S DISEASE
Romanian Journal of Neurology
wilson’s disease (wd)
treatment
global assessment scale for wd (gas for wd)
author_facet A. Hancu
C. Mihai
D. Zguma
A. Docu Axelerad
E. Dumitru
M. Kaivanifard
author_sort A. Hancu
title WILSON’S DISEASE
title_short WILSON’S DISEASE
title_full WILSON’S DISEASE
title_fullStr WILSON’S DISEASE
title_full_unstemmed WILSON’S DISEASE
title_sort wilson’s disease
publisher Amaltea Medical Publishing House
series Romanian Journal of Neurology
issn 1843-8148
2069-6094
publishDate 2011-09-01
description A disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13. The concentration of the copper transport protein ceruloplasmin is abnormally low and, as a result, the serum free copper concentration is high and an abnormally large amount of copper is eliminated in the urine. Free copper is deposited in the liver, the edge of the cornea, the brain. We present a case who debuted by tremors and thrombocytopenia. Continuous therapy with Trientine hydrochloride and Mega zinc, and elimination of copper rich foods were improved cognitive, behavioral and motor dysfunctions.
topic wilson’s disease (wd)
treatment
global assessment scale for wd (gas for wd)
url https://revistemedicale.amaltea.ro/Romanian_Journal_of_NEUROLOGY/Revista_Romana_de_NEUROLOGIE-2011-Nr.3/RJN_2011_3_Art-08.pdf
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AT cmihai wilsonsdisease
AT dzguma wilsonsdisease
AT adocuaxelerad wilsonsdisease
AT edumitru wilsonsdisease
AT mkaivanifard wilsonsdisease
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