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Increased Levels of Ceramide in the Retina of a Patient With Farber's Disease

Increased Levels of Ceramide in the Retina of a Patient With Farber's Disease Abstract To the Editor. —Farber's disease (disseminated lipogranulomatosis) is an autosomal recessive inherited lysosomal-storage disease. The accumulation of ceramide, the N-acyl fatty acid derivative of sphingosine, is characteristic of Farber's disease. In nine of 27 patients described in the literature, a deficiency of ceramidase, a lysosomal enzyme that catalyzes the hydrolysis of the amide linkage between the sphingosine and fatty acid moieties, has been proven.1 Recently we described the light and electron microscopic findings in the eyes of a 35-month-old girl with Farber's disease.2 Herein we report that the retina of this patient contained increased levels of ceramide. Materials and Methods. —High-pressure liquid chromatography was used to resolve lipids in 4% formaldehyde-fixed retinal tissue (Figure). Perbenzoylated control retinal lipids and retinal lipids from the patient with Farber's disease (0.1 mg each) were separated on a 5-μm silica gel column. Elution was carried out with a linear gradient (0% References 1. Moser HW, Chen WW: Ceramidase deficiency: Farber's lipogranulomatosis , in Stanbury JB, Wyngaarden JB, Frederickson DS, et al (eds): The Metabolic Basis of Inherited Disease , ed 5. New York, McGraw-Hill International Book Co, 1983, pp 820-830. 2. Zarbin MA, Green WR, Moser HW, et al: Farber's disease: Light and electron microscopic study of the eye . Arch Ophthalmol 1985;103:73-80.Crossref 3. Sugita M, Iwamari M, Evans J, et al: HPLC of ceramides: Application to analysis in human tissues and demonstration of ceramide excess in Farber's disease . J Lipid Res 1974;15:223. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Increased Levels of Ceramide in the Retina of a Patient With Farber's Disease

Increased Levels of Ceramide in the Retina of a Patient With Farber's Disease

Abstract

Abstract To the Editor. —Farber's disease (disseminated lipogranulomatosis) is an autosomal recessive inherited lysosomal-storage disease. The accumulation of ceramide, the N-acyl fatty acid derivative of sphingosine, is characteristic of Farber's disease. In nine of 27 patients described in the literature, a deficiency of ceramidase, a lysosomal enzyme that catalyzes the hydrolysis of the amide linkage between the sphingosine and fatty acid moieties, has been proven.1...
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Publisher
American Medical Association
Copyright
Copyright © 1988 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1988.01060140323008
Publisher site
See Article on Publisher Site

Abstract

Abstract To the Editor. —Farber's disease (disseminated lipogranulomatosis) is an autosomal recessive inherited lysosomal-storage disease. The accumulation of ceramide, the N-acyl fatty acid derivative of sphingosine, is characteristic of Farber's disease. In nine of 27 patients described in the literature, a deficiency of ceramidase, a lysosomal enzyme that catalyzes the hydrolysis of the amide linkage between the sphingosine and fatty acid moieties, has been proven.1 Recently we described the light and electron microscopic findings in the eyes of a 35-month-old girl with Farber's disease.2 Herein we report that the retina of this patient contained increased levels of ceramide. Materials and Methods. —High-pressure liquid chromatography was used to resolve lipids in 4% formaldehyde-fixed retinal tissue (Figure). Perbenzoylated control retinal lipids and retinal lipids from the patient with Farber's disease (0.1 mg each) were separated on a 5-μm silica gel column. Elution was carried out with a linear gradient (0% References 1. Moser HW, Chen WW: Ceramidase deficiency: Farber's lipogranulomatosis , in Stanbury JB, Wyngaarden JB, Frederickson DS, et al (eds): The Metabolic Basis of Inherited Disease , ed 5. New York, McGraw-Hill International Book Co, 1983, pp 820-830. 2. Zarbin MA, Green WR, Moser HW, et al: Farber's disease: Light and electron microscopic study of the eye . Arch Ophthalmol 1985;103:73-80.Crossref 3. Sugita M, Iwamari M, Evans J, et al: HPLC of ceramides: Application to analysis in human tissues and demonstration of ceramide excess in Farber's disease . J Lipid Res 1974;15:223.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Sep 1, 1988

References