Abstract:
BACKGROUND:Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life. METHODS:14 patients with EE were investigated for mutations in the ETHE1 gene. RESULTS:Of the 14 patients, 5 were found to carry novel mutations. CONCLUSIONS:This work expands our knowledge of the causative mutations of EE.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Mineri R,Rimoldi M,Burlina AB,Koskull S,Perletti C,Heese B,von Döbeln U,Mereghetti P,Di Meo I,Invernizzi F,Zeviani M,Uziel G,Tiranti Vdoi
10.1136/jmg.2008.058271subject
Has Abstractpub_date
2008-07-01 00:00:00pages
473-8issue
7eissn
0022-2593issn
1468-6244pii
45/7/473journal_volume
45pub_type
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