Urinary 3-methylhistidine and urinary 3-methylhistidine/creatinine ratio in Duchenne-muscular dystrophy in hemizygotes and in gene-carriers.
The informative value of urinary 3-methylhistidine excretion and urinary 3-methylhistidine/creatinine ratio was investigated in DMD hemizygote male children (n = 13) and in gene-carrier mothers. A significant increase of the urinary 3-methylhistidine/creatinine ratio was found in DMD hemizygotes. There was no significant correlation between serum CK and the clinical stages of DMD and the above mentioned laboratory parameters. These parameters were not found suitable in genetic counselling concerning the DMD gene-carrier status.
D000293:Adolescent; D000328:Adult; D002648:Child; D003404:Creatinine / Q000652:urine*; D005260:Female; D006579:Heterozygote; D006639:Histidine / Q000031:analogs & derivatives*; D006801:Humans; D008297:Male; D008762:Methylhistidines / Q000652:urine*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000652:urine
D008762:Methylhistidines; D006639:Histidine; D003404:Creatinine; C028118:3-methylhistidine