[Study of taurine levels in the blood and urine of patients with hereditary spinocerebellar degeneration].
Measurements were made of the content of taurine in the blood and urine of 25 patients with Friedreich's ataxia and 13 patients suffering from Pierre Marie syndrome as well as of their 55 phenotypically healthy relatives. A high excretion of taurine with urine was found as was a direct relationship between the content of that amino acid and the intensity of ataxic disorders. The content of taurine in the urine of the patients' phenotypically healthy relatives appeared to be between the parameters established in the patients and healthy persons. It is suggested that the high excretion of taurine may be of the genetic character and that such a deficiency may play the leading part in the origin of motor disorders in patients with hereditary ataxias.
Magalov
Sh I
ShI
Arzumanova
K G
KG
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D013654:Taurine / Q000378:metabolism*
D013654:Taurine
Issledovanie soderzhaniia tayrina v krovi i moche u bol'nykh s nasledstvennymi spinotserebelliarnymi degeneratsiiami.