Peroxisomal fatty acyl-CoA reductase 1 disorder
Definition:
Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 (RCDP4). It is characterized by syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia or skeletal abnormalities. Mutations in FAR1, producing fatty alcohols used in plasmalogen biosynthesis, were recently shown to cause this disease.
References:
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[1]. Rebecca Buchert, et al. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014 Nov 6;95(5):602-10. [Content Brief]
[2]. Tuva Barøy, et al. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. [Content Brief]
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