Weakness Associated with the Pathological Presence of Lipid in Skeletal Muscle: a Detailed Study of a Patient with Carnitine Deficiencey

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1976 Nov 1

PMID 1011021

Citations 5

Authors

H Isaacs

J J Heffron

M Badenhorst

A Pickering

Affiliations

Soon will be listed here.

Abstract

A patient with muscular weakness demonstrating pathological lipid accumulation and abnormal mitochondria in skeletal muscle has been studied. The lipid accumulation and mitochondrial changes are thought to be related to the established deficiency of carnitine in this patient's muscle. The symptoms of muscular weakness associated with lipid accumulation in the skeletal muscle in the absence of complaint of muscle cramps or myglobinuria are thought to be diagnostic of carnitine deficiency. The failure of the sarcoplasmic reticulum to accumulate Ca2+ is discussed. The patient's strength responded dramatically when propranolol was added to his steroid therapy.

Citing Articles

"Carnitine deficient" myopathy and cardiomyopathy with fatal outcome.

Cornelio F, Di Donato S, Testa D, Mora M, Gori G, Peluchetti D Ital J Neurol Sci. 1980; 1(2):95-100.

PMID: 7338455

Lipid storage myopathy: successful treatment with propranolol.

Martyn C, Jellinek E, Webb J Br Med J (Clin Res Ed). 1981; 282(6281):1997-9.

PMID: 6788163 PMC: 1505898. DOI: 10.1136/bmj.282.6281.1997.

A hereditary case of lipid storage myopathy with carnitine deficiency. Ultrastructural observation of muscle tissue in parents.

Pellegrini G, Scarlato G, Moggio M J Neurol. 1980; 223(2):73-84.

PMID: 6157005 DOI: 10.1007/BF00313171.

Autosomal recessive lipid storage myopathy (probable carnitine deficiency).

Almog C, Fried K, Reif R, Zieghelboim J, LEWINSOHN G J Med Genet. 1979; 16(6):435-8.

PMID: 537015 PMC: 1012589. DOI: 10.1136/jmg.16.6.435.

Muscular carnitine synthesis and palmitate metabolism in vitro.

Scarlato G, Meola G, Scarpini E, Cerri C J Neurol. 1978; 218(3):149-56.

PMID: 79642 DOI: 10.1007/BF00313008.

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