Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course
| Autor: | J. M. Schröder, Wolfram S. Kunz, Michael Sailer, J. Kreuder, J. Weis, Stefan Vielhaber, Helmut Feistner |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Adult
myalgia medicine.medical_specialty Physical exercise Muscular Diseases Carnitine Physiology (medical) Internal medicine Humans Medicine Myopathy Muscle biopsy medicine.diagnostic_test business.industry Skeletal muscle General Medicine Lipid Metabolism Endocrinology medicine.anatomical_structure Neurology Carnitine biosynthesis Female Surgery Neurology (clinical) medicine.symptom business Primary Carnitine Deficiency medicine.drug |
| Zdroj: | Journal of Clinical Neuroscience. 11:919-924 |
| ISSN: | 0967-5868 |
| Popis: | We studied two adult patients with myalgia and muscular fatigability during prolonged physical exercise. Serum creatine kinase was increased and muscle biopsy revealed a lipid storage myopathy affecting predominantly the type I fibres. Skeletal muscle carnitine content was reduced to 15% and 21% of the normal mean values, while serum carnitine levels were either normal or decreased. Four months of oral therapy with L-carnitine (3 g per day) resolved the clinical symptoms completely in both patients, and a subsequent muscle biopsy confirmed a marked reduction of lipid storage, along with increased muscle carnitine levels. The analysis of renal carnitine excretion and the exclusion of possible secondary carnitine deficiencies in both patients are compatible with mild defects of the carnitine transporter in one patient and of carnitine biosynthesis in the other. Since myalgia and muscular fatigue are frequent but unspecified complaints of otherwise clinically unremarkable adult patients, it is important to identify myopathies associated with primary carnitine deficiency because they may be amenable to treatment. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect