Mucolipidosis type 4

Common Name(s)

Mucolipidosis type 4, Ganglioside sialidase deficiency

Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients ({10:Chen et al., 1998}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucolipidosis type 4" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Natural History of Mucolipidosis Type IV
 

Status: Recruiting

Condition Summary: Mucolipidosis Type IV

 

Last Updated: 12 Aug 2014

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