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Histochemical stain of skin biopsies showing fatty alcohol oxidizing activity using hexanol as substrate. A. The staining pattern of a control patient.

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Presentation on theme: "Histochemical stain of skin biopsies showing fatty alcohol oxidizing activity using hexanol as substrate. A. The staining pattern of a control patient."— Presentation transcript:

1 Histochemical stain of skin biopsies showing fatty alcohol oxidizing activity using hexanol as substrate. A. The staining pattern of a control patient with nonbullous congenital ichthyosis, showing abundant enzyme activity in the basal, spinous, and granular layers. B. Staining pattern of an SLS patient, showing a striking reduction of activity in the spinous and granular layers. Note that some activity is still detectable in the most basal cells, perhaps arising from an alcohol-oxidizing enzyme(s) that is not deficient in SLS. (Dr. Brian Lake, Department of Histopathology, Great Ormond Street Hospital, London, provided this figure.) Source: Sjögren-Larsson Syndrome: Fatty Aldehyde Dehydrogenase Deficiency, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 14, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved

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