SJÖGREN-LARSSON SYNDROME (SLS): DEFICIENT FATTY ALCOHOL
نویسندگان
چکیده
منابع مشابه
Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). FALDH is an enzyme component of fatty alcohol:NAD oxidoreductase (FAO), which is necessary for fatty alcohol metabolism. To better understand the biochemical basis for the cutaneous symptoms in this di...
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Karl Gustaf Torsten Sjögren (1896-1974), (Figure 1), a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry.1-4 Sjögren studied medicine at the University of Uppsala.1 From 1932 to 1935, he was Head Physician and Director of Lillehagen Hospital in Gothenburg, and between 19351945, he was physician-in-chief at the psychiatric department of Sahlgrenska Hospital in Gothe...
متن کاملSjögren-Larsson syndrome in a Turkish family.
Sjogren-Larsson syndrome, first described by Sjogren in 1956, and then jointly with Larsson in 1957, is known to occur in different populations throughout the world (Blumel, Watkins, and Eggers, 1958; Richards, 1960; Link and Roldan, 1958; Zaleski, 1962; Heijer and Reed, 1965; Selmanowitz and Porter, 1967). The condition appears to be a clinical and pathological entity characterized by ichthyos...
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Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if int...
متن کاملA gatekeeper helix determines the substrate specificity of Sjögren–Larsson Syndrome enzyme fatty aldehyde dehydrogenase
Mutations in the gene coding for membrane-bound fatty aldehyde dehydrogenase (FALDH) lead to toxic accumulation of lipid species and development of the Sjögren-Larsson Syndrome (SLS), a rare disorder characterized by skin defects and mental retardation. Here, we present the crystallographic structure of human FALDH, the first model of a membrane-associated aldehyde dehydrogenase. The dimeric FA...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198704010-01070