Lipid storage myopathy, ichthyosis, and steatorrhea
Dr. A. Miranda PhD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Pathology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorCorresponding Author
Dr. S. DiMauro MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
College of Physicians and Surgeons of Columbia University, 630 West 168th St., New York, NY 10032Search for more papers by this authorDr. A. Eastwood PhD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. A. Hays MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Pathology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. W. G. Johnson MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. M. Olarte MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. R. Whitlock MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Medicine, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. R. Mayeux MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. L. P. Rowland MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. A. Miranda PhD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Pathology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorCorresponding Author
Dr. S. DiMauro MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
College of Physicians and Surgeons of Columbia University, 630 West 168th St., New York, NY 10032Search for more papers by this authorDr. A. Eastwood PhD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. A. Hays MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Pathology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. W. G. Johnson MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. M. Olarte MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. R. Whitlock MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Medicine, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. R. Mayeux MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorDr. L. P. Rowland MD
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Departments of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Institute of Presbyterian Hospital, New York, NY
Search for more papers by this authorAbstract
A 41-year-old man had ichthyosis, ectropion, steatorrhea, and slowly progressive proximal limb weakness. Biopsies showed abnormal lipid accumulation in muscle, liver, skin, leukocytes, and gastric mucosa. Lipid storage was particularly marked in cultures of skin and muscle, and it increased in subsequent cell generations. By electron microscopy, the lipid globules showed no limiting membranes. The stored lipid was identified by thin-layer chromatography as triglyceride; there was no excess of cholesterol or cholesteryl esters. Muscle carnitine concentration and activities of carnitine palmityltransferase and acid lipase were normal; 14CO2 production from labeled palmitate in leukocytes was not impaired. The excessive accumulation of triglyceride in different tissues and in the progeny of cells in tissue culture suggests a genetic error of lipid metabolism.
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