title: Bicarnesine-treated carnitine deficient myopathy: clinico-chemical investigations.
abstract: Authors report on a Bicarnesine replacement therapy in an infant girl patient suffering from carnitine deficient myopathy diagnosed at 1 year of age. The hypotonic patient's motoric functions improved and she became able to walk as a result of therapy applied, but the pathological process generalized to encephalomyopathy. Free and esterified carnitine were determined from the serum and muscle biopsymaterial. After the Bicarnesine-supplementation the serum carnitine fractions elevated.
authors: Szent-Györgyi Medical University, Department of Pediatrics, Szeged.
authors: A
authors: A
authors: László
authors: L
authors: L
authors: Klujber
authors: A
authors: A
authors: Svékus
mesh_terms: D002331:Carnitine / Q000172:deficiency* / Q000378:metabolism / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007223:Infant; D009135:Muscular Diseases / Q000188:drug therapy* / Q000209:etiology / Q000378:metabolism
chemical_list: D002331:Carnitine