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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.
AuthorsCharles N Swisher
JournalPediatric neurology briefs (Pediatr Neurol Briefs) Vol. 29 Issue 1 Pg. 6 (Jan 2015) ISSN: 1043-3155 [Print] United States
PMID26933529 (Publication Type: Journal Article)

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