Mucolipidosis
Definition
Mucolipidosis (ML) is a group of rare, inherited disorders that are characterized by the accumulation of complex fats, called mucolipids, in the cells of the body. The symptoms range from skeletal abnormalities and vision problems to physical and mental retardation.
Description
Types of mucolipidosis
There are three major types of mucolipidosis. Mucolipidosis II (ML II, ML2) or ML disorder type II, is known as I-cell disease (ICD). Sometimes it is called Leroy disease, after Jules Leroy who described the disorder in 1969. ML II also is known as N-acetylglucosamine-1-phosphotransferase (GNPTA) deficiency. GNPTA is the enzyme that is defective in ML II.
Mucolipidosis III (ML III, ML3), or ML...
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