[Pathogenesis and pathophysiology of carnitine deficiency, a predictable risk].
When patients suffer from hepato-encephalopathy, (cardio)myopathy, dystrophy, hypoglycaemia, some metabolic diseases and several other disease states, carnitine deficiency should be considered. In this article a survey is given of the pathophysiology, laboratory diagnostics, clinical symptomatology and some therapeutic approaches. Some different cases will be demonstrated.
Rodrigues Pereira
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St. Clara Ziekenhuis, afd. Kindergeneeskunde, Rotterdam.
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D000328:Adult; D009202:Cardiomyopathies / Q000209:etiology; D002331:Carnitine / Q000172:deficiency* / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D006501:Hepatic Encephalopathy / Q000209:etiology; D006801:Humans; D008297:Male; D008659:Metabolic Diseases / Q000209:etiology; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy
D002331:Carnitine
Pathogenese en pathofysiologie van carnitinedeficiëntie, een voorspelbaar risico.