title: Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren-Larsson syndrome.
abstract: Using a histochemical technique, we have demonstrated a consistent deficiency of alcohol (hexanol) dehydrogenase activity within the epidermis and jejunal mucosa of patients with Sjögren-Larsson syndrome. Biochemical assay of the fatty alcohol: NAD oxidoreductase activity in cultured fibroblasts and leukocytes from these patients showed deficient activities compared with controls. The histochemical and biochemical results are complementary, and the simpler histochemical method can be used reliably for initial screening of patients with ichthyosis in whom a diagnosis of Sjögren-Larsson syndrome is suspected.
authors: Department of Dermatology, Institute of Child Health, London, U.K.
authors: M R
authors: MR
authors: Judge
authors: B D
authors: BD
authors: Lake
authors: V V
authors: VV
authors: Smith
authors: G T
authors: GT
authors: Besley
authors: J I
authors: JI
authors: Harper
mesh_terms: D000426:Alcohol Dehydrogenase / Q000378:metabolism*; D001706:Biopsy; D004796:Clinical Enzyme Tests; D006801:Humans; D007413:Intestinal Mucosa / Q000201:enzymology*; D007583:Jejunum; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis / Q000201:enzymology* / Q000473:pathology; D012867:Skin / Q000201:enzymology* / Q000473:pathology
chemical_list: D000426:Alcohol Dehydrogenase