Siblings with Ethylmalonic Encephalopathy: Case Report

• Main Authors: Çiğdem Seher Kasapkara (Author), Ayşe Aksoy (Author), Emine Polat (Author), Mustafa Kılıç (Author), Serdar Ceylaner (Author)
• Format: Book
• Published: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes a rare inborn error of metabolism, ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy, chronic hemorrhagic diarrhea, recurrent petechiae, orthostatic acrocyanosis, defective cytochrome C oxidase because of h...