Fatty Acyl-CoA Reductase 1 Deficiency
Abstract
Investigators from Erlangen, Germany; Calgary, CA; and Kafranbel, Syria, identified mutations in the gene, fatty acyl-CoA reductase 1 (FAR1) deficiency, adding to three other genes involved in plasmalogen biosynthesis, in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
DOI: https://doi.org/10.15844/pedneurbriefs-29-1-5 | Journal eISSN: 2166-6482
Language: English
Page range: 6 - 6
Submitted on: Dec 15, 2014
Accepted on: Dec 25, 2014
Published on: Jan 1, 2015
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2015 Charles N Swisher, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.