Lege Artis Medicinae

[Rare genetic disease of copper metabolism]

SZILI Károly, VANYA Melinda, MÁGORI Krisztina, LAJOS György

DECEMBER 15, 2015

Lege Artis Medicinae - 2015;25(11-12)

[INTRODUCTION - Wilson’s disease is a rare genetic disease of copper metabolism. Nearly, 300 patients in Hungary suffering from Wilson’s disease CASE - 25-year-old male patients were examined because of because speech impairment and ocular symptoms. The increase in blood copper and ceruloplasmin and point mutations in the ATP7B proven confirmed the diagnosis of Wilson’s disease. DISCUSSION - In diagnosis of rare disease is not easy because of the variety of symptoms and the high costs of genetic testing, we would like to draw the attention to it.]

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