Mucolipidosis
Mukolipidosen (ML), also Mucolipidosen written, are a group of four extremely rare autosomal - recessive inherited lysosomal storage diseases . The mucolipidoses are clinically similar to the mucopolysaccharidoses , but have a different etiology and are even rarer than them.
The mucolipidoses
| Classification according to ICD-10 | |
|---|---|
| E77.1 | Defects in glycoprotein breakdown - sialidosis [mucolipidosis I] |
| E77.0 | Defects in the post-translational modification of lysosomal enzymes - mucolipidosis II [I-cell disease] - mucolipidosis III [pseudo-Hurler polydystrophy] |
| E75.1 | Other gangliosidoses - mucolipidosis IV |
| ICD-10 online (WHO version 2019) | |
The four currently known mucolipidoses are:
- Sialidosis type II ((ML type I)
- I-cell disease (ML type II α / β)
- Pseudo-Hurler polydystrophy (ML type III α / β)
- Sialolipidosis (ML type IV)
etiology
The cause of Mukolipidosen are mutations in the genome coding for proteins encoded . 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 mucolipidoses are inherited as an autosomal recessive trait.
Pathology and diagnostics
With the exception of the pseudo-Hurler polydystrophy, the mucolipidoses are characterized by severe psychomotor retardation of those affected. Malformations in the skeletal structure (skeletal dysmorphism ) and diseases of the retina can be very different.
The four mucolipidoses can be reliably diagnosed prenatally and postnatally using enzymatic and molecular genetic methods.
therapy
There is currently no known causal therapy for the mucolipidoses. Treatment is essentially symptomatic.
Individual evidence
- ↑ W. Hort: Pathology of the endocardium, the coronary arteries and the myocardium. Verlag Springer, 2000, ISBN 3-540-65326-0 , pp. 1350-1351.
- ↑ a b c H. Denk ao: Pathology of the liver and biliary tract. Verlag Springer, 2000, ISBN 3-540-65501-8 , pp. 253-255.
literature
- S. Tiede et al: Mucolipidoses. In: Kinderheilkunde 154, 2006, pp. 955–961.
- SS Cathey et al: Molecular order in mucolipidosis II and III nomenclature. In: Am J Med Genet A 146A, 2008, pp. 512-513. PMID 18203164
- A. Carl et al .: Atlantoaxial instability and myelopathy in mucolipidosis. In: Spine 16, 1991, pp. 215-217. PMID 2011780
Web links
- Mucolipidoses Fact Sheet (English)