Ontology highlight
ABSTRACT:
SUBMITTER: Ersoy M
PROVIDER: S-EPMC7476058 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Ersoy Melike M Tiranti Valeria V Zeviani Massimo M
Molecular genetics and metabolism reports 20200828
Ethylmalonic encephalopathy (EE) is a rare metabolic disorder caused by dysfunction of ETHE1 protein, a mitochondrial dioxygenase involved in hydrogen sulfide (H<sub>2</sub>S) detoxification. EE is usually a fatal disease with a severe clinical course mainly associated with developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Treatment includes antioxidants, antibiotics that lower H<sub>2</sub>S levels and antispastic medications, which are no ...[more]