Beta-ureidopropionase deficiency as a rare cause of dystonia
Dilek İşcan1
, Zehra Yavuz2, Selim Selçuk Çomoğlu2
1Niğde Ömer Halisdemir Üniversitesi Tıp Fakültesi, Nöroloji Anabilim Dalı, Niğde, Türkiye
2Sağlık Bilimleri Üniversitesi, Etlik Şehir Hastanesi, Nöroloji Kliniği, Ankara, Türkiye
Keywords: Beta-ureidopropionase deficiency, deep brain stimulation, dystonia, Holmes tremor.
Abstract
Dystonia is a group of disorders characterized by abnormal, repetitive movements or postures caused by excessive muscle contractions. It is classified according to body distribution and etiology. There are genetic and nongenetic dystonias. In this case report, we present a 34-year-old female patient who, to the best of our knowledge, is the first reported case in the literature to have undergone deep brain stimulation and been diagnosed with beta-ureidopropionase deficiency, a very rare cause of dystonia.