Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.
Cultured fibroblasts from a 46,XY male with an atypical form of mucolipidosis II (I-cell disease) had two distinct phenotypes. One population of these fibroblasts had the morphological and biochemical features characteristic of I-cell disease, while the remaining cells were indistinguishable from normal fibroblasts. Direct evidence that the patient was a mosaic, having two cell populations, was provided by the establishment of pure, stable clones of both wild type and I-cell fibroblasts from each of two biopsies obtained several months apart. Additionally, it was shown that the I-cell fibroblasts lacked UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminylphosphotransferase while the morphologically normal cells contained levels of this enzyme just below or at the lower end of the normal range.
D002478:Cells, Cultured; D002553:Cerebroside-Sulfatase / Q000032:analysis; D002999:Clone Cells; D005347:Fibroblasts / Q000201:enzymology; D005808:Genes, Recessive; D006596:Hexosaminidases / Q000032:analysis; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009030:Mosaicism; D009081:Mucolipidoses / Q000201:enzymology / Q000235:genetics*; D009439:Neuraminidase / Q000032:analysis; D010641:Phenotype; D010770:Phosphotransferases / Q000172:deficiency; D017855:Transferases (Other Substituted Phosphate Groups); D001616:beta-Galactosidase / Q000032:analysis
D010770:Phosphotransferases; D017855:Transferases (Other Substituted Phosphate Groups); C030012:UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase; D002553:Cerebroside-Sulfatase; D006596:Hexosaminidases; D009439:Neuraminidase; D001616:beta-Galactosidase