title: 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.
authors.affiliation: Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
authors.forename: Charles N
authors.initials: CN
authors.lastname: Swisher
keywords: Developmental delay; Fatty Acyl-CoA Reductase 1; Peroxisomal disorder