Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy. 1980

R C Sengers, and J A Bakkeren, and J M Trijbels, and A M Stadhouders, and G J Egberink, and H J ter Laak, and H J Jaspar

An 18-month-old boy presented with general hypotonia, decreased muscle strength, retarded motor development and stunted growth. The excretion of dicarboxylic acids was enhanced. EMG was normal. A muscle biopsy revealed a lipid storage myopathy. Oral daily supplementation with 2 g D, L-carnitine resulted in: (1) an increase of the growth velocity; (2) increased muscle strength, and (3) a decrease in the lipid fraction of the fibre volume. The carnitine content of the muscle biopsied prior to treatment appeared to be normal.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008052 Lipid Metabolism, Inborn Errors Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. Lipid Metabolism, Inborn Error
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009135 Muscular Diseases Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D002331 Carnitine A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism. Bicarnesine,L-Carnitine,Levocarnitine,Vitamin BT,L Carnitine
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001706 Biopsy Removal and pathologic examination of specimens from the living body. Biopsies

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