tuberous sclerosis: hydroxyproline content in urine and tissues.
To elucidate the nature of an overabundance of collagen seen on microscopic examination in tuberous sclerous (TS), the hydroxyproline content in tissues and urine was determined. TS tissues of 5 patients were obtained on necropsy or plastic surgery. Urine was collected from 10 patients with TS and 19 controls. Tumors in kidney, pancreas, lung and heart but not brain contained more hydroxyproline than the surrounding tissues. In brain with the lowest hydroxyproline content, the tumor showed reduced hydroxyproline compared to normal. Collagen sheet in TS skin and shagreen patch showed the same hydroxyproline content as control skin. Th urinary hydroxyproline: creatinine ratios of the patients with TS were all higher than those in age-matched controls with or without anticonvulsant treatment except for congenital muscular dystrophy. The higher content of hydroxyproline in several affected tissues and urine of patients with TS might indicate that an increase in collagen synthesis occurs in TS.
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000096:biosynthesis; D005260:Female; D006801:Humans; D006909:Hydroxyproline / Q000378:metabolism*; D007223:Infant; D007668:Kidney / Q000378:metabolism; D008168:Lung / Q000378:metabolism; D008297:Male; D009206:Myocardium / Q000378:metabolism; D010179:Pancreas / Q000378:metabolism; D014402:Tuberous Sclerosis / Q000378:metabolism*
D003094:Collagen; D006909:Hydroxyproline