Sjogren-Larsson syndrome: inherited defect in the fatty alcohol cycle

Sjogren-Larsson syndrome (SLS) is an inherited disease characterized by dry, scaly skin, mental retardation and spastic paralysis. Children born with SLS have white dots on the retina of the eye, speech problems, hump-like curvature of the spine and are short in height. Affected patients have a deficiency of an enzyme needed for the metabolism of fatty alcohol in the skin and for the cover of nerve fibers. To study the metabolism of fatty alcohol, the skin cells (fibroblasts) of eight patients with SLS were examined. The fibroblast cells had accumulations of fatty alcohol. It was found that the fatty alcohol oxidoreductase (FAO) enzyme deficiency was the main biochemical defect in these patients, which was not found in patients having other skin or neurological diseases. The measurement of FAO in infants born with apparent skin abnormalities will help in the diagnosis of SLS. Treatment with a low-fat diet to limit the amount of long-chain fatty acids which are essential for the production of fatty alcohols improved the skin manifestations in one patient.