National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Mucolipidosis IV is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- ML Disorder IV
- ML IV
- Berman Syndrome
- Ganglioside Sialidase Deficiency
- Ganglioside Neuraminidase Deficiency
- Neuraminidase Deficiency
Mucolipidosis IV is a rare inherited metabolic disorder believed to be characterized by a deficiency of transport channel receptor protein, based upon the recent discovery of the Mucolipidosis IV gene. This deficiency may lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.
Mucolipidosis IV is characterized by mental retardation; severe impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation); diminished muscle tone (hypotonia); clouding (opacity) of the clear portion of the eyes through which light passes (cornea); and/or degeneration of the nerve-rich membrane lining the eyes (retinal degeneration). Mucolipidosis IV is thought to be inherited as an autosomal recessive genetic trait.
MucolipidosisType IV Foundation
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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Genetic and Rare Diseases (GARD) Information Center
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Hide & Seek Foundation for Lysosomal Disease Research
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 5/8/2008
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