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Lipid storage myopathy, ichthyosis, and steatorrhea
Author(s) -
Miranda A.,
DiMauro S.,
Eastwood A.,
Hays A.,
Johnson W. G.,
Olarte M.,
Whitlock R.,
Mayeux R.,
Rowland L. P.
Publication year - 1979
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880020102
Subject(s) - ichthyosis , steatorrhea , chylomicron , endocrinology , lipid metabolism , medicine , myopathy , triglyceride , carnitine , lipid droplet , biology , cholesterol , chemistry , biochemistry , very low density lipoprotein , lipoprotein , genetics
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; 14 CO 2 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.