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Mucolipidosis IV

Abstract

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Synonyms of Mucolipidosis IV

  • Berman Syndrome
  • Ganglioside Neuraminidase Deficiency
  • Ganglioside Sialidase Deficiency
  • ML Disorder IV
  • ML IV
  • Neuraminidase Deficiency
  • Sialolipidosis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Organizations related to Mucolipidosis IV

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