Pseudo-Hurler polydystrophy

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Pseudo-Hurler polydystrophy
ICD-10 E77.0
ICD-9 272.7
OMIM 252600
DiseasesDB 29378
MeSH D009081

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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

  1. 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

Cost Effectiveness of Pseudo-Hurler polydystrophy

| group5 = Clinical Trials Involving Pseudo-Hurler polydystrophy | list5 = Ongoing Trials on Pseudo-Hurler polydystrophy at Clinical Trials.govTrial results on Pseudo-Hurler polydystrophyClinical 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 polydystrophyNICE Guidance on Pseudo-Hurler polydystrophyNHS PRODIGY GuidanceFDA on Pseudo-Hurler polydystrophyCDC 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 polydystrophyAND (drug interactions)}} Drug interactions with Pseudo-Hurler polydystrophyAND (side effects)}} Side effects of Pseudo-Hurler polydystrophyAND (Allergy)}} Allergic reactions to Pseudo-Hurler polydystrophyAND (overdose)}} Overdose information on Pseudo-Hurler polydystrophyAND (carcinogenicity)}} Carcinogenicity information on Pseudo-Hurler polydystrophyAND (pregnancy)}} Pseudo-Hurler polydystrophy in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Pseudo-Hurler polydystrophy


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Pseudo-Hurler polydystrophy | list9 = AND (pharmacogenomics)}} Genetics of Pseudo-Hurler polydystrophyAND (pharmacogenomics)}} Pharmacogenomics of Pseudo-Hurler polydystrophyAND (proteomics)}} Proteomics of Pseudo-Hurler polydystrophy


| group10 = Newstories on Pseudo-Hurler polydystrophy | list10 = Pseudo-Hurler polydystrophy in the newsBe alerted to news on Pseudo-Hurler polydystrophyNews trends on Pseudo-Hurler polydystrophy


| 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 polydystrophyDiscussion groups on Pseudo-Hurler polydystrophyPatient Handouts on Pseudo-Hurler polydystrophyDirections to Hospitals Treating Pseudo-Hurler polydystrophyRisk calculators and risk factors for Pseudo-Hurler polydystrophy


| group13 = Healthcare Provider Resources on Pseudo-Hurler polydystrophy | list13 = Symptoms of Pseudo-Hurler polydystrophyCauses & Risk Factors for Pseudo-Hurler polydystrophyDiagnostic studies for Pseudo-Hurler polydystrophyTreatment 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 EspanolPseudo-Hurler polydystrophy en Francais

| group16 = Business Resources on Pseudo-Hurler polydystrophy | list16 = Pseudo-Hurler polydystrophy in the MarketplacePatents on Pseudo-Hurler polydystrophy

| group17 = Informatics Resources on Pseudo-Hurler polydystrophy | list17 = List of terms related to Pseudo-Hurler polydystrophy


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