Pseudo-Hurler polydystrophy
| Pseudo-Hurler polydystrophy | |
| ICD-10 | E77.0 |
|---|---|
| ICD-9 | 272.7 |
| OMIM | 252600 |
| DiseasesDB | 29378 |
| MeSH | D009081 |
Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.
Overview
Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is lysosomal storage disease closely related to I-cell disease (ML II). Symptoms of ML III are often not noticed until the child is 3-5 years of age.
Pathophysiology
As in ML II, ML III results from genetic defects in GlcNAc phosphotransferase (N-acetylglucosamine-1-phosphotransferase). However, ML III produces less severe symptoms and progresses more slowly, probably because the defect in GlcNAc phosphotranspherase lies in its protein recognition domain.[1] Therefore, the catalytic domain retains some of its activity, resulting in a smaller accumulation of carbohydrates, lipids, and proteins in the inclusion bodies.
Presentation
Patients with ML III are generally of normal intelligence (trait) or have only mild mental retardation. These patients usually have skeletal abnormalities, coarse facial features, short height, and corneal clouding. Some individuals with ML III survive until their fourth or fifth decade of life.
References
- ↑ Murray, R, Granner, D, and Rodwell, V. (2006). Harper's Illustrated Biochemistry. 27th ed. New York: Lange Medical Books/McGraw-Hill.
- mucolipidoses at NINDS - original text of article derived from detail sheet available here
See Also
WikiDoc Research Resources for Pseudo-Hurler polydystrophy | |
|---|---|
| Articles on Pseudo-Hurler polydystrophy | Most recent articles on Pseudo-Hurler polydystrophy • Most cited articles on Pseudo-Hurler polydystrophy • Review articles on Pseudo-Hurler polydystrophy • Articles on Pseudo-Hurler polydystrophy in N Eng J Med, Lancet, BMJ |
| Media (Slides, Video, Images, MP3) on Pseudo-Hurler polydystrophy | Powerpoint slides on Pseudo-Hurler polydystrophy • Images of Pseudo-Hurler polydystrophy • Photos of Pseudo-Hurler polydystrophy • Podcasts & MP3s on Pseudo-Hurler polydystrophy • Videos on Pseudo-Hurler polydystrophy |
| Evidence Based Medicine Regarding Pseudo-Hurler polydystrophy | AND (Cochrane Database Syst Rev[http://worldselectshop.com/?id=9361 Cochrane Collaboration on Pseudo-Hurler polydystrophy • Bandolier on Pseudo-Hurler polydystrophy • TRIP on Pseudo-Hurler polydystrophy |
| Cost Effectiveness of Pseudo-Hurler polydystrophy | AND (Cost effectiveness) |
| group5 = Clinical Trials Involving Pseudo-Hurler polydystrophy | list5 = Ongoing Trials on Pseudo-Hurler polydystrophy at Clinical Trials.gov • Trial results on Pseudo-Hurler polydystrophy • Clinical Trials on Pseudo-Hurler polydystrophy at Google
| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Pseudo-Hurler polydystrophy
| list6 = US National Guidelines Clearinghouse on Pseudo-Hurler polydystrophy • NICE Guidance on Pseudo-Hurler polydystrophy • NHS PRODIGY Guidance • FDA on Pseudo-Hurler polydystrophy • CDC on Pseudo-Hurler polydystrophy
| group7 = Textbook Information on Pseudo-Hurler polydystrophy
| list7 = Books and Textbook Information on Pseudo-Hurler polydystrophy
| group8 = Pharmacology Resources on Pseudo-Hurler polydystrophy
| list8 =
AND (Dose)}} Dosing of Pseudo-Hurler polydystrophy • AND (drug interactions)}} Drug interactions with Pseudo-Hurler polydystrophy • AND (side effects)}} Side effects of Pseudo-Hurler polydystrophy • AND (Allergy)}} Allergic reactions to Pseudo-Hurler polydystrophy • AND (overdose)}} Overdose information on Pseudo-Hurler polydystrophy • AND (carcinogenicity)}} Carcinogenicity information on Pseudo-Hurler polydystrophy • AND (pregnancy)}} Pseudo-Hurler polydystrophy in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Pseudo-Hurler polydystrophy •
| group9 = Genetics, Pharmacogenomics, and Proteinomics of Pseudo-Hurler polydystrophy
| list9 =
AND (pharmacogenomics)}} Genetics of Pseudo-Hurler polydystrophy • AND (pharmacogenomics)}} Pharmacogenomics of Pseudo-Hurler polydystrophy • AND (proteomics)}} Proteomics of Pseudo-Hurler polydystrophy
| group10 = Newstories on Pseudo-Hurler polydystrophy
| list10 = Pseudo-Hurler polydystrophy in the news • Be alerted to news on Pseudo-Hurler polydystrophy • News trends on Pseudo-Hurler polydystrophy</small>
| group11 = Commentary on Pseudo-Hurler polydystrophy
| list11 =
Blogs on Pseudo-Hurler polydystrophy
| group12 = Patient Resources on Pseudo-Hurler polydystrophy | list12 = Patient resources on Pseudo-Hurler polydystrophy • Discussion groups on Pseudo-Hurler polydystrophy • Patient Handouts on Pseudo-Hurler polydystrophy • Directions to Hospitals Treating Pseudo-Hurler polydystrophy • Risk calculators and risk factors for Pseudo-Hurler polydystrophy
| group13 = Healthcare Provider Resources on Pseudo-Hurler polydystrophy
| list13 =
Symptoms of Pseudo-Hurler polydystrophy • Causes & Risk Factors for Pseudo-Hurler polydystrophy • Diagnostic studies for Pseudo-Hurler polydystrophy • Treatment of Pseudo-Hurler polydystrophy
| group14 = Continuing Medical Education (CME) Programs on Pseudo-Hurler polydystrophy | list14 = CME Programs on Pseudo-Hurler polydystrophy
| group15 = International Resources on Pseudo-Hurler polydystrophy | list15 = Pseudo-Hurler polydystrophy en Espanol • Pseudo-Hurler polydystrophy en Francais
| group16 = Business Resources on Pseudo-Hurler polydystrophy | list16 = Pseudo-Hurler polydystrophy in the Marketplace • Patents on Pseudo-Hurler polydystrophy
| group17 = Informatics Resources on Pseudo-Hurler polydystrophy | list17 = List of terms related to Pseudo-Hurler polydystrophy
}}
Table of Contents In Alphabetical Order | By Individual Diseases | Signs and Symptoms | Physical Examination | Lab Tests | Drugs
Editor Tools Become an Editor | Editors Help Menu | Create a Page | Edit a Page | Upload a Picture or File | Printable version | Permanent link | Maintain Pages | What Pages Link HereThere is no pharmaceutical or device industry support for this site and we need your viewer supported Donations | Editorial Board | Governance | Licensing | Disclaimers | Avoid Plagiarism | Policies
