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Browse result for Ethylmalonic encephalopathy

※ introduction

    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.

Reference
Wiki: Ethylmalonic encephalopathy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03471O9557123474
ETHE1
Persulfide dioxygenase ETHE1, mitochondrial
Homo sapiens