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.

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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 3 free, full-text research articles on human participants. First 3 results:

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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ETHE1 mutations are specific to ethylmalonic encephalopathy.
 

Author(s): V Tiranti, E Briem, E Lamantea, R Mineri, E Papaleo, L De Gioia, F Forlani, P Rinaldo, P Dickson, B Abu-Libdeh, L Cindro-Heberle, M Owaidha, R M Jack, E Christensen, A Burlina, M Zeviani

Journal: J. Med. Genet.. 2006 Apr;43(4):340-6.

 

Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic encephalopathy (EE). EE is a devastating infantile metabolic disorder, characterised by widespread lesions in the brain, hyperlactic acidaemia, petechiae, orthostatic ...

Last Updated: 3 Apr 2006

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Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
 

Author(s): Valeria Tiranti, Pio D'Adamo, Egill Briem, Gianfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, Maria-Teresa Garcia-Silva, Brigitte Vollmer, Piero Rinaldo, Si Houn Hahn, James Leonard, Shamima Rahman, Carlo Dionisi-Vici, Barbara Garavaglia, Paolo Gasparini, Massimo Zeviani

Journal: Am. J. Hum. Genet.. 2004 Feb;74(2):239-52.

 

Ethylmalonic encephalopathy (EE) is a devastating infantile metabolic disorder affecting the brain, gastrointestinal tract, and peripheral vessels. High levels of ethylmalonic acid are detected in the body fluids, and cytochrome c oxidase activity is decreased in skeletal muscle. ...

Last Updated: 23 Jan 2004

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Reviews from the PubMed Database

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The terms "Ethylmalonic Encephalopathy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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