Mucolipidosis IV
Etiology and Pathogenesis Abnormal transport of lysosomal enzymes result in decreased levels of several enzymes in the cell and excretion of enzyme into the extracellular compartment. Results in progressive accumulation of ganglioside and mucopolysaccharide. Key Symptom Images
Image Credits: Corneal clouding courtesy of Desnick et al., 2003, with permission from author and publisher. Clinical Description and Progression/Prognosis Early developmental delay. Patients do not usually progress past the developmental age of 15-18 months, but there is little deterioration after this age. Inheritance pattern: autosomal recessive Incidence: Unknown Diagnosis: demonstration of typical storage organelles by electron microscopy [2] Conditions with similar presentations: Cystinosis, Fabry disease Management: no disease-specific treatment available Other medical care: symptom management
 Mental retardation Psychomotor retardation Diminished muscle tone (hypotonia) Corneal clouding Retinal involvement: pigmentary changes and/or optic atrophy 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. Saudubray, Jean-Marie et al. “Clinical Phenotypes: Diagnosis/Algorithms.” The Metabolic and Molecular Bases of Inherited Disease, 8th Edition Online. McGraw-Hill. http://genetics.accessmedicine.com/server-java/Arknoid/amed/mmbid/co_chapters/ch066/ch066_p01.html Accessed September 2004. |
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