Fatty Acyl-CoA Reductase 1 Deficiency

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,...

Full description

Bibliographic Details
Published in:Pediatric Neurology Briefs
Main Author: Charles N Swisher
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2015-01-01
Subjects:
peroxisomal disorder
fatty acyl-coa reductase 1
developmental delay
Online Access:https://www.pediatricneurologybriefs.com/articles/32
Description
Summary: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.
ISSN:1043-3155
2166-6482

Similar Items