Ethylmalonic Encephalopathy

Common Name(s)

Ethylmalonic Encephalopathy

Ethylmalonic encephalopathy is an inherited disorder that is usually evident at birth and affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature. Ethylmalonic encephalopathy is inherited in an autosomal recessive pattern and caused by mutations in the ETHE1 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ethylmalonic Encephalopathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ethylmalonic Encephalopathy" returned 5 free, full-text research articles on human participants. First 3 results:

Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.
 

Author(s): Ilaria Pettinati, Jürgen Brem, Michael A McDonough, Christopher J Schofield

Journal: Hum. Mol. Genet.. 2015 May;24(9):2458-69.

 

The ethylmalonic encephalopathy protein 1 (ETHE1) catalyses the oxygen-dependent oxidation of glutathione persulfide (GSSH) to give persulfite and glutathione. Mutations to the hETHE1 gene compromise sulfide metabolism leading to the genetic disease ethylmalonic encephalopathy. hETHE1 ...

Last Updated: 4 Apr 2015

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Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.
 

Author(s): Bárbara J Henriques, Tânia G Lucas, João V Rodrigues, Jane H Frederiksen, Miguel S Teixeira, Valeria Tiranti, Peter Bross, Cláudio M Gomes

Journal:

 

ETHE1 is an iron-containing protein from the metallo β-lactamase family involved in the mitochondrial sulfide oxidation pathway. Mutations in ETHE1 causing loss of function result in sulfide toxicity and in the rare fatal disease Ethylmalonic Encephalopathy (EE). Frequently mutations ...

Last Updated: 9 Sep 2014

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Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.
 

Author(s): Ivano Di Meo, Alberto Auricchio, Costanza Lamperti, Alberto Burlina, Carlo Viscomi, Massimo Zeviani

Journal: EMBO Mol Med. 2012 Sep;4(9):1008-14.

 

Ethylmalonic encephalopathy (EE) is an invariably fatal disease, characterized by the accumulation of hydrogen sulfide (H(2)S), a highly toxic compound. ETHE1, encoding sulfur dioxygenase (SDO), which takes part in the mitochondrial pathway that converts sulfide into harmless sulfate, ...

Last Updated: 4 Sep 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ethylmalonic Encephalopathy" returned 1 free, full-text review articles on human participants. First 3 results:

Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
 

Author(s): Valeria Tiranti, Massimo Zeviani

Journal:

 

Hydrogen sulfide (sulfide, H(2)S) is a colorless, water-soluble gas with a typical smell of rotten eggs. In the past, it has been investigated for its role as a potent toxic gas emanating from sewers and swamps or as a by-product of industrial processes. At high concentrations, H(2)S ...

Last Updated: 3 Jan 2013

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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