H01249 | |
H number | H01249 |
Name | Ethylmalonic encephalopathy |
Description | Ethylmalonic encephalopathy (EE) is an autosomal recessive metabolic disease caused by mutations in the ETHE1 gene. EE is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent petechiae, orthostatic acrocyanosis, and death in the first years of life. |
Category | Inherited metabolic disorder |
Network | - |
Gene | ETHE1 [HSA:23474] [KO:K17725] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | MeSH: C535737 OMIM: 602473 |
Reference | PMID:14732903 AUTHORS Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M TITLE Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. JOURNAL Am J Hum Genet 74:239-52 (2004) DOI:10.1086/381653 PMID:16828325 AUTHORS Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D, Tiranti V TITLE A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. JOURNAL Mol Genet Metab 89:395-7 (2006) DOI:10.1016/j.ymgme.2006.05.010 PMID:11916321 AUTHORS Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S TITLE Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. JOURNAL J Inherit Metab Dis 24:870-3 (2001) DOI:10.1023/A:1013948409790 |