title: Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy).
abstract: Mucolipidosis III (MLIII) is caused by a deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine 1-phosphotransferase (phosphotransferase) activity, an enzyme responsible for the formation of the recognition marker on most lysosomal enzymes. The consequences of this defect are impairment of many lysosomal catabolic processes. A deficiency of phosphotransferase activity causes two phenotypically different diseases: mucolipidosis II and a rare form, mucolipidosis III (pseudo-Hurler polydystrophy). The purpose of this article is to report three patients with ML III, presenting quite different clinical courses: Patient 1 is a 13-year-old girl in whom the only symptoms of ML III were joint stiffness of the hands. Patients 2 and 3 are sibs: a 5-year-old boy with a severe form of ML III and his 2-year-old sister, who is less affected than her brother at the same age. A comparison of biochemical results and the clinical picture of our patients with cases in the literature is presented.
authors.affiliation: Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. atylki@czd.waw.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.forename: Barbara
authors.initials: B
authors.lastname: Czartoryska
authors.forename: Johanna E M
authors.initials: JE
authors.lastname: Groener
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Ługowska
mesh_terms: D000293:Adolescent; D001192:Arylsulfatases / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D005966:Glucuronidase / Q000378:metabolism; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008361:Mannosidases / Q000378:metabolism; D009081:Mucolipidoses / Q000201:enzymology / Q000473:pathology*; D010770:Phosphotransferases / Q000378:metabolism; D043323:alpha-Mannosidase; D001616:beta-Galactosidase / Q000378:metabolism; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism
chemical_list: D010770:Phosphotransferases; D001192:Arylsulfatases; D008361:Mannosidases; D001616:beta-Galactosidase; D043323:alpha-Mannosidase; D005966:Glucuronidase; D001619:beta-N-Acetylhexosaminidases