Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria
| العنوان: | Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria |
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| المؤلفون: | Salvatore DiMauro, Paola M. Melis DiMauro |
| المصدر: | Science. 182:929-931 |
| بيانات النشر: | American Association for the Advancement of Science (AAAS), 1973. |
| سنة النشر: | 1973 |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Palmitic Acids, Lipid Metabolism, Inborn Errors, chemistry.chemical_compound, Acetyltransferases, Carnitine, Internal medicine, Coenzyme A Ligases, medicine, Humans, Carnitine palmitoyltransferase II, Carbon Radioisotopes, Acetylcarnitine, Palmitoylcarnitine, Multidisciplinary, Muscles, Myoglobinuria, Recurrent myoglobinuria, Skeletal muscle, medicine.disease, Mitochondria, Muscle, Endocrinology, medicine.anatomical_structure, chemistry, Carnitine palmitoyltransferase II deficiency, Acyltransferases, medicine.drug |
| الوصف: | Muscle carnitine palmityltransferase activity, measured by three different methods, was very low (0 to 20 percent of controls) in a patient with a familial syndrome of recurrent myoglobinuria. Long-chain fatty acyl CoA synthetase activity was normal; acetylcarnitine transferase activity was decreased by 40 percent, and carnitine content was 1.7 times higher than the mean control value. Utilization of palmitate by isolated mitochondria was more impaired than utilization of palmitylcarnitine, suggesting a more severe defect of carnitine palmityltransferase I than transferase II. Thus, myoglobinuria may be due to a genetic defect of lipid metabolism in skeletal muscle. |
| تدمد: | 1095-9203 0036-8075 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::351ddde35d64034f404ca7516632043bTest https://doi.org/10.1126/science.182.4115.929Test |
| رقم الانضمام: | edsair.doi.dedup.....351ddde35d64034f404ca7516632043b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10959203 00368075 |
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