Mucolipidosis

Mukolipidosen (ML ), also spelled Mucolipidosen, are a group of four extremely rare autosomal recessive lysosomal storage diseases. The Mukolipidosen resemble clinically the mucopolysaccharidoses, however, have a different etiology and are also rarer than this.

The Mukolipidosen

The four currently known Mukolipidosen are:

• Sialidosis type II ( (ML Type I)
• I- cell disease (ML type II α / β )
• Pseudo- Hurler polydystrophy (ML type III α / β )
• Sialolipidose (ML type IV)

Etiology

The cause of Mukolipidosen mutations in the genome coding for proteins. This leads to malfunctions in the metabolism of polysaccharides, lipids and glycoproteins. In contrast to the clinical picture of mucopolysaccharidoses mucopolysaccharides are metabolized normally.

The Mukolipidosen be inherited as an autosomal recessive trait.

Pathology and Diagnostics

The Mukolipidosen stand out - with the exception of the pseudo - Hurler polydystrophy - by severe psychomotor retardation of the victim out. Abnormalities in the structure of skeleton ( skeletal dysmorphism ) and diseases of the retina can be highly different.

By enzymatic and molecular genetic methods can be diagnosed prenatally and the four Mukolipidosen postnatal safe.

Therapy

There is so far no known causal therapy for the Mukolipidosen. The treatment is carried out essentially symptomatic.