KEGG   DISEASE: Ethylmalonic encephalopathy
Entry
H01249                      Disease                                
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
Gene
ETHE1 [HSA:23474] [KO:K17725]
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
Reference
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
Reference
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

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

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