Problem
Sialidosis
Other Names:
Mucolipidosis I Nature:
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.
Broader Problems:
Congenital oligosaccharide disorders Problem Type:
G: Very specific problems Date of last update
04.10.2020 – 22:48 CEST