Ethylmalonic encephalopathy
id:
ethylmalonic-encephalopathy-263-12117393
title:
Ethylmalonic encephalopathy
text:
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures. The genetic defect in EE is thought to involve an impairment in the degradation of sulfide intermediates in the body. Hydrogen sulfide then builds up to toxic levels. EE was initially described in 1994. Most cases of EE have been described in individuals of Mediterranean or Arab
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy
date created:
date modified:
2021-10-04T02:32:55Z
main entity:
{"identifier":"Q17119115","url":"https://www.wikidata.org/entity/Q17119115"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/3/3e/Autorecessive.svg","width":1350,"height":1580}
fields total:
13
integrity:
15