Successful Treatment of Pure Myopathy, Associated With Complex I Deficiency, With Riboflavin and Carnitine
| Autor: | Ad M. Stadhouders, Rob C.A. Sengers, Fons J. M. Gabreëls, Willie O. Renier, Wim Ruitenbeek, P. L. J. A. Bernsen |
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| Rok vydání: | 1991 |
| Předmět: |
Male
Muscle tissue medicine.medical_specialty Biopsy Riboflavin medicine.medical_treatment Muscular Diseases Arts and Humanities (miscellaneous) Mitochondrial myopathy Carnitine Internal medicine NAD(P)H Dehydrogenase (Quinone) medicine Humans Quinone Reductases Child Myopathy Chemotherapy medicine.diagnostic_test biology business.industry Muscles NADH dehydrogenase medicine.disease Microscopy Electron medicine.anatomical_structure Endocrinology biology.protein Drug Therapy Combination Neurology (clinical) medicine.symptom business medicine.drug |
| Zdroj: | Archives of Neurology. 48:334-338 |
| ISSN: | 0003-9942 |
| DOI: | 10.1001/archneur.1991.00530150106028 |
| Popis: | • We describe a 6-year-old boy who presented with progressive muscle weakness. Additional investigations revealed the existence of a myopathy and a pure motor neuropathy. Biochemical studies in muscle tissue showed a defect of NADH dehydrogenase (complex I). The patient dramatically improved on treatment with riboflavin andl-carnitine. Seven months after the start of the treatment, complex I activity was determined again and appeared to be normalized. Normalization of the enzymatic defect at this level has not been reported before. We provide a survey of nine patients with pure myopathy, associated with complex I deficiency and onset of symptoms in childhood. |
| Databáze: | OpenAIRE |
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