Sjogren-Larsson syndrome

De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG et al. Sjogren-Larsson syndrome... 

DeLaurenzi, V. etal., Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrognease gene, Nat. Genet., 12, 52, 1996. 

Jagell, S. and Liden, S., Treatment of the ichthyosis of the Sjogren-Larsson syndrome with etretinate (Tigason ), Acta Derm. Venereol., 63, 89-91, 1983. 

Willemsen MA, Lutt MA, Steijlen PM, Cruysberg JR, van der Graaf M, Nijhuis-van der Sanden MW, Pasman JW, Mayatepek E, Rotteveel JJ. Clinical and biochemical effects of zileuton in patients with the Sjogren-Larsson syndrome. Eur J Pediatr 2001 160(12) 711-17. 

Keywords Lipidomics fabry Sjogren-Larsson syndrome... 

Of the deficits unrelated to the glycolipids which show an abundant clinical literature but less interest manifested by scientists in the field of lipidomics are ceroid lipofuscinosis (the deficiency in palmitoyl-protein thioesterase (PPT)) and the Sjogren-Larsson syndrome, a defect of ALDH3A2 gene which encodes fatty aldehyde dehydrogenase (FALDH). It is pertinent to question the reason for such differences between clinical and basic scientific interests reflected in literature citations. 

Aslam S.A., Sheth H.G., Ocular features of Sjogren-Larsson syndrome. Clinical experimental ophthalmology 35 (2007) 98-99. 

Pigg M., Annton-Lamprecht I., Braun-Quentin C., Gustavson K.H., Wadelius C., Further evidence of genetic homogeneity in Sjogren-Larsson syndrome, Acta dermato-venereologica 79 (1999) 41-43. 

Rizzo W.B., Craft D.A., Sjogren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol NAD+ oxidoreductase in cultured fibroblasts, The Journal of clinical investigation 88 (1991) 1643-1648. 

Rizzo W.B., Craft D.A., Kelson T.L., Bonnefont J.P., Saudubray J.M., Schulman J.D., Black S.H., Tabsh K., Dirocco M., Gardner R.J., Prenatal diagnosis of Sjogren-Larsson syndrome using enzymatic methods. Prenatal diagnosis 14 (1994) 577-581. 

Willemsen M.A., Cruysberg J.R., Rotteveel J.J., Aandekerk A.L., Van Domburg P.H., Deutman A.F., Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjogren-Larsson syndrome, American journal of ophthalmology 130 (2000) 782-789. 

A few disorders have been identified causing secondary disturbances in LT elimination and degradation, e.g. defective hepatobiliary elimination of cysteinyl leukotrienes as seen in the Dubin-Johnson syndrome [3], impaired co-oxidation of LTB4 in the Sjogren-Larsson syndrome [4] or altered jff-oxidation in disorders of peroxisome biogenesis such as the Zellweger syndrome [5]. The metabolic changes seen in these disorders are characterised by altered urinary excretion patterns of leukotrienes. However, in these conditions LT synthesis itself is not affected. 

Theile, U. (1974). Sjogren-Larsson Syndrome. Oligophrenia — Ichthyosis — DiATetra-plegia. Humangenetik, 22,91... 

Sjogren-Larsson syndrome consists of mental retardation, progressive spastic paralysis, and an ichthyosiform dermatosis that most resembles lamellar ichthyosis grossly and histologically. Like lamellar ichthyosis, it is inherited as an autosomal recessive trait... 

Heijer, A. and Reed, W. B. (1965). Sjogren-Larsson syndrome.. 4rcA. Dermatol, 92,545... 

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