Ethylmalonic encephalopathy
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 Arabic origin.
Wikipage disambiguates
Wikipage redirect
primaryTopic
Ethylmalonic encephalopathy
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 Arabic origin.
has abstract
Ethylmalonic encephalopathy (E ...... editerranean or Arabic origin.
@en
OMIM id
thumbnail
Wikipage page ID
Wikipage revision ID
722,246,336
comment
Ethylmalonic encephalopathy (E ...... editerranean or Arabic origin.
@en
label
Ethylmalonic encephalopathy
@en
wasDerivedFrom
isPrimaryTopicOf
name
Ethylmalonic encephalopathy
@en