[Mucopolysacchariduria in genetic dermatoses: hereditary epidermolysis bullosa, congenital ichthyosis and ectodermal dysplasia].
4 patients suffering from epidermolysis bullosa, 11 persons with genetically determined ichthyosis, as well as 3 cases of x-linked recessive ectodermal dysplasia were investigated with regard to glycosaminoglycane(GAG)uria; the GAG fractions were analysed by means of GAG thin-layer chromatography. All three groups of patients showed increased GAG-uria. The GAG fractions proved to be chondroitin-6-sulphate, chondroitin-4-sulphate, and heparan-sulphate. The pathomechanism of the increased GAG-uria is supposed to be an increased GAG degradation process.
D000328:Adult; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000652:urine*; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000652:urine*; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000652:urine*; D008297:Male
D006025:Glycosaminoglycans
Mukopolysaccharidurie bei Genodermatosen, Epidermolysis bullosa hereditaria, Ichthyosis congenita und ektodermaler Dysplasie.