Bicarnesine-treated carnitine deficient myopathy: clinico-chemical investigations.
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.
László
A
A
Szent-Györgyi Medical University, Department of Pediatrics, Szeged.
Klujber
L
L
Svékus
A
A
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
D002331:Carnitine