Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1
Article first published online: 5 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 9, pages 2204–2215, September 2013
How to Cite
2013. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet Part A 161A:2204–2215., , , , , , , , , .
Most papers in the medical literature refer to MEGDEL as an “association.” Since this condition is causality defined, I agree that this entity is a syndrome. As indicated in the paper, the authors propose calling this condition, the MEGDHEL syndrome adding the H for the hepatopathy.
John C. Carey
Conflict of interest: none.
- Issue published online: 14 AUG 2013
- Article first published online: 5 AUG 2013
- Manuscript Accepted: 19 APR 2013
- Manuscript Received: 14 SEP 2012
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