Familial recurrent rhabdomyolysis due to carnitine palmityl transferase deficiency
| Autor: | Bernard M. Patten, Patrick M. Hefferan, Yadollah Harati, Jeanie M. Wood, R. Rodney Howell |
|---|---|
| Rok vydání: | 1979 |
| Předmět: |
Adult
Male endocrine system medicine.medical_specialty endocrine system diseases Mitochondria Liver Mitochondrion Recurrence Internal medicine Carnitine medicine Inner membrane Animals Humans heterocyclic compounds neoplasms biology Carnitine O-Palmitoyltransferase business.industry Myoglobinuria Cell Membrane Palmitoylcarnitine Skeletal muscle Lipid metabolism General Medicine medicine.disease digestive system diseases Enzyme assay Mitochondria Muscle Rats medicine.anatomical_structure Endocrinology biology.protein business Rhabdomyolysis Acyltransferases medicine.drug |
| Zdroj: | The American journal of medicine. 67(1) |
| ISSN: | 0002-9343 |
| Popis: | Muscle carnitine palmityltransferase (CPT) activity was very low (0 to 14 per cent of controls) in two brothers with a syndrome of recurrent rhabdomyolysis and myoglobulinuria. In isolated muscle mitochondria the majority (87.5 per cent) of total measurable CPT enzyme activity could be attributed to external membrane CPT with severe deficiency of inner membrane CPT. By contrast, control mitochondria demonstrated a 1:1 distribution of external membrane CPT to inner membrane CPT. Thus, myoglobinuria may be due to a genetic defect of lipid metabolism in skeletal muscle, with inner membrane CPT deficiency presenting the same clinical features as external membrane CPT deficiency. |
| Databáze: | OpenAIRE |
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