[Clinical protocols concerned with disorders of fatty acid beta oxidation].
Inborn defects in fatty acid oxidation are a newly described group of diseases affecting infants and child. This disorder frequently masquerades as Reye's syndrome or sudden infant death syndrome. The known defects, now totaling 11, share many clinical similarities. Clinical manifestations include episodes of coma and hypoglycemia that are induced by fasting, or chronic, progressive muscle weakness and cardiomyopathy. Affected patients are often free of symptoms between episodes. A characteristic organic aciduria or enzyme activity in cultured skin fibroblasts permit diagnosis. Because of high mortality and morbidity rates, early diagnosis is desirable. treatment for survivors siblings is simple and is associated with avoidance of prolonged fasting. Systemic screening of the general population should be initiated to identify those affected and start treatment before they become ill.
Kania
M
M
I Kliniki Chorób Dzieci Polsko-Amerykańskiego, Instytutu Pediatrii, Krakowie.
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy*; D010084:Oxidation-Reduction; D012202:Reye Syndrome / Q000175:diagnosis
D005227:Fatty Acids
Nastepstwa kliniczne zwiazane z zaburzeniami procesu beta-oksydacji kwasów tłuszczowych.