Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate.
Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed an increased 35S-sulphate incorporation into acid mucopolysaccharides. When fibroblast cultures from one obligate and two possible carriers of Hunter's syndrome were tested for 35S-sulphate incorporation, the cultures showed either twice the normal 35S-sulphate incorporation into acid mucopolysaccharides in the presence of fructose 1-phosphate or an abnormally high incorporation in the presence as well as in the absence of the sugar phosphate.
D000328:Adult; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D005636:Fructosephosphates / Q000494:pharmacology*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D008360:Mannosephosphates / Q000494:pharmacology; D008875:Middle Aged; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000235:genetics*; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000235:genetics*; D013431:Sulfates / Q000378:metabolism; D013462:Sulfur Radioisotopes; D014960:X Chromosome
D005636:Fructosephosphates; D006025:Glycosaminoglycans; D008360:Mannosephosphates; D013431:Sulfates; D013462:Sulfur Radioisotopes; C027693:mannose-6-phosphate