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Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy).
Am J Med Genet. 2002 Mar 15; 108(3):214-8.AJ

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+Show Affiliations

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. atylki@czd.waw.plNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11891688

Citation

Tylki-Szymańska, Anna, et al. "Clinical Variability in Mucolipidosis III (pseudo-Hurler Polydystrophy)." American Journal of Medical Genetics, vol. 108, no. 3, 2002, pp. 214-8.
Tylki-Szymańska A, Czartoryska B, Groener JE, et al. Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). Am J Med Genet. 2002;108(3):214-8.
Tylki-Szymańska, A., Czartoryska, B., Groener, J. E., & Ługowska, A. (2002). Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). American Journal of Medical Genetics, 108(3), 214-8.
Tylki-Szymańska A, et al. Clinical Variability in Mucolipidosis III (pseudo-Hurler Polydystrophy). Am J Med Genet. 2002 Mar 15;108(3):214-8. PubMed PMID: 11891688.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). AU - Tylki-Szymańska,Anna, AU - Czartoryska,Barbara, AU - Groener,Johanna E M, AU - Ługowska,Agnieszka, PY - 2002/3/14/pubmed PY - 2002/4/4/medline PY - 2002/3/14/entrez SP - 214 EP - 8 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 108 IS - 3 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/11891688/Clinical_variability_in_mucolipidosis_III__pseudo_Hurler_polydystrophy__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=108&issue=3&spage=214 DB - PRIME DP - Unbound Medicine ER -