Fatty Acyl-CoA Reductase 1 Deficiency

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, microcephaly, congenital cataracts, growth retardation, and spasticity.

Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis.

Plasmalogens are a major subclass of ethanolamine and choline glycerophospholipids in which a long chain fatty alcohol is attached at the sn-1 position through a vinyl ether bond. This ether-linked alkyl bond is formed in peroxisomes by replacement of a fatty acyl chain in the intermediate 1-acyl-dihydroxyacetone phosphate with a fatty alcohol in a reaction catalyzed by alkyl dihydroxyacetone p...

[Very-long-chain acyl-CoA dehydrogenase deficiency].

Short-chain acyl-CoA dehydrogenase deficiency.

The c.625G>A variant of the short-chain acyl-CoA dehydrogenase (SCAD) gene is considered to confer susceptibility for developing “clinical SCAD deficiency (SCADD)” and appears to be common in the general population. To determine the frequency of the c.625G>A variant in the Netherlands, we analyzed 1036 screening cards of 5to 8-dayold newborns and found 5.5% homozygous and 31.3% heterozygous for...

[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency].

common disorder of fatty acid oxidation affecting 1 in 13,000 newborns and is inherited as an autosomal recessive disorder. This enzyme deficiency results in the inability to catabolize medium-chain (6-12 carbon molecules) fatty acids for energy utilization. MCAD deficiency often presents in the first two years of life after viral illness or fasting. This inability to break down medium-chain li...