Journal
JOURNAL OF MEDICAL GENETICS
Volume 45, Issue 7, Pages 473-478Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.2008.058271
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- Telethon [GGP07019] Funding Source: Medline
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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.
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