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Introduction

Mucolipidosis belongs to a group of inherited metabolic disorders that affect the normal functioning of the body, ie, as it pertains to cellular byproducts and functions. There are four types (described elsewhere in the book as indicated) that correspond to sialidosis (sometimes referred to as ML I), and types II, III, and IV. They are classified as follow:

  • Type I: Sialidosis (see Sialidosis). It is now classified as glycoproteinosis.

  • Type II: Sialidosis type II (see Sialidosis), also called Leroy I-cell Syndrome (see I-Cell Disease)

  • Type III: Pseudo-Hurler polydystrophy (see Pseudo-Hurler Polydystrophy)

  • Type IV: Mucolipidosis IV (see Gangliosidosis). It is caused by a cellular alteration that prevents movement of calcium across cell membranes. Clinically, it is characterized by movement development and coordination disabilities, corneal opacities, loss of vision, and unsteady gait. It is occasionally misdiagnosed as cerebral palsy.

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