Mitochondria-lipid-glycogen Myopathy, Hyperlactacidemia, and Carnitine Deficiency

Overview

Journal Neurology

Specialty Neurology

Date 1978 Nov 1

PMID 568729

Citations 12

Authors

S Di Donato

F Cornelio

M R Balestrini

B Bertagnolio

D Peluchetti

Affiliations

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Abstract

A 25-month-old girl had proximal myopathy, increased blood lactate and pyruvate concentrations, and transient ketoacidosis. Muscle biopsy revealed vacuolar myopathy with accumulation of both lipid and glycogen. Electronmicroscopy also showed abnormalities in the shape, size, and internal structure of muscle mitochondria. Carnitine content of skeletal muscle was reduced. Short-chain and long-chain acyl-carnitines were augmented in both plasma and skeletal muscle. Oral carnitine therapy improved muscle strength.

Citing Articles

Friedreich's ataxia. I. Clinical, neurophysiological and in vivo biochemical studies.

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"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.

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Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis.

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Lipid storage myopathy associated with scoliosis and multiple joint contractures.

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[Diagnostic significance of muscle biopsies in metabolic myopathies. I. Myopathology].

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