Mucolipidosis III (Pseudo-Hurler Polydystrophy)
Etiology and Pathogenesis [1]Abnormal transport of enzymes results in decreased levels of several enzymes in cells and excretion of enzyme into the extracellular compartment. N-acetylglucosamine-l-phosphotransferase is an essential enzyme for the synthesis of a mannose-6-phosphate recognition marker that targets lysosomal enzymes to the lysosome. Results in progressive accumulation of glycoprotein and glycolipids. Key Symptom Images Clinical Description and Progression/Prognosis [1]Progressive disorder with multiple organ and tissue involvement and wide spectrum of clinical severity. Later onset than type II (which presents in the 1st year of life), and slower progression, with some patients reaching adulthood. Onset 2 – 4 years. Inheritance pattern: autosomal recessive Diagnosis: enzyme assay Incidence: 1 in 325,000 live births (types II and III together) [2] Conditions with similar presentations: MPS I, MPS VI Management: no disease-specific treatment available Other medical care: symptom management
 Mild hepatosplenomegaly Joint stiffness and destruction Carpal tunnel syndrome Skeletal deformities Aortic valve disease Corneal clouding Mild retinopathy Hyperopic astigmatism Back to categories
1. Clarke LA. Clinical diagnosis of lysosomal storage diseases. In: Applegarth DA, Dimmick JE, JG Hall. Organelle Diseases: Clinical Features, Diagnosis, Pathogenesis and Management. London: Chapman and Hall 1997; 37-71.
2. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA. 1999; 281: 249-254. |
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