Severe early onset ethylmalonic encephalopathy with West syndrome.
Roma, Italy. In Metab Brain Dis, Dec 2015
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain.
Sulfide detoxification in plant mitochondria.
Heidelberg, Germany. In Methods Enzymol, 2014
Two enzymes have been recently described to catalyze sulfide detoxification in mitochondria of Arabidopsis thaliana, O-acetylserine(thiol)lyase C (OAS-TL C), and the sulfur dioxygenase (SDO) ethylmalonic encephalopathy protein 1 (ETHE1).
Stress response of OsETHE1 is altered in response to light and dark conditions.
New Delhi, India. In Plant Signal Behav, 2013
ETHYLMALONIC ENCEPHALOPATHY PROTEIN1 (ETHE1), encoding sulfur dioxygenase activity is believed to be an important candidate in sulfur metabolism, where it is involved in amino acid catabolism during carbohydrate starvation and embryo development as seen in Arabidopsis thaliana.
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Milano, Italy. In J Med Genet, 2006
Mutations of ETHE1 were detected in all the typical ethylmalonic encephalopathy patients analysed, but no ETHE1 mutations were identified in patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria.