Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids. Both of these substances accumulate in bodily tissues.
Sialidosis
Glycosuria
Beta-mannosidosis
Galactosialidosis
Alpha-mannosidosis
Xanthinuria
Lipiduria
Sialuria