Fatty Acyl-CoA Reductase 1 Deficiency.

Charles N Swisher

doi:10.15844/pedneurbriefs-29-1-5

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.

Highlights

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, earlyonset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity
The spectrum of clinical features associated with defects in plasmalogen biosynthesis is expanded to include FAR1 deficiency as a cause of syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia
Mutations in PEX7, GNPAT, and AGPS are the genes previously described in individuals with rhizomelic chondrodysplasia punctata (RCDP)

Summary

Introduction

Lurie Children’s Hospital of Chicago, Chicago, IL 2Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL *Correspondence: Dr Charles N. Related Article: Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, et al A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

Results

Conclusion