Lipid storage myopathy, ichthyosis, and steatorrhea Journal Articles

abstract

• AbstractA 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.

authors

• Miranda, A
• DiMauro, S
• Eastwood, A
• Hays, A
• Johnson, WG
• Olarte, M
• Whitlock, Richard
• Mayeux, R
• Rowland, LP

status

• published 

publication date

• January 1979

has subject area

• 11 Medical and Health Sciences (FoR)
• Adult (MeSH)
• Carnitine O-Palmitoyltransferase (MeSH)
• Celiac Disease (MeSH)
• Culture Techniques (MeSH)
• Ectropion (MeSH)
• Esterases (MeSH)
• Fibroblasts (MeSH)
• Humans (MeSH)
• Ichthyosis (MeSH)
• Lipase (MeSH)
• Lipid Metabolism (MeSH)
• Lipidoses (MeSH)
• Male (MeSH)
• Muscles (MeSH)
• Neurology & Neurosurgery (Science Metrix)
• Skin (MeSH)
• Syndrome (MeSH)
• Triglycerides (MeSH)

published in

• Muscle and Nerve  Journal

keywords

• Adult
• Carnitine O-Palmitoyltransferase
• Celiac Disease
• Culture Techniques
• Ectropion
• Esterases
• Fibroblasts
• Humans
• Ichthyosis
• Lipase
• Lipid Metabolism
• Lipidoses
• Male
• Muscles
• Skin
• Syndrome
• Triglycerides

Digital Object Identifier (DOI)

• 10.1002/mus.880020102

PubMed ID

• 545139

start page

• 1

end page

• 13

volume

• 2

issue

• 1