Abstract
Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.
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References
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Because the patient is a minor, informed consent from the parents are taken. Also, ethical approval was taken on 07.07.2017. The ethical committee members were Selim Kadıoğlu, Davut Alptekin, Dinçer Yıldızdaş, Mehmet Kanadaşı, Gülşah Şeydaoğlu and Murat Gündüz.
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Bulut, F.D., Kör, D., Şeker-Yılmaz, B. et al. Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency. Metab Brain Dis 33, 977–979 (2018). https://doi.org/10.1007/s11011-017-0152-8
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DOI: https://doi.org/10.1007/s11011-017-0152-8