Oligosaccharidosis

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Oligosaccharidoses , in some publications as glycoproteinoses or Glycoproteinosen called, are a group of extremely rare autosomal - recessive inherited lysosomal storage diseases . The phenotype of the affected patients is similar to that of the mucopolysaccharidoses . However, the etiology and symptoms are different. In the Anglo-Saxon specialist literature, the term glycoproteinosis is mostly used for oligosaccharidoses .

The oligosaccharidoses

The following oligosaccharidoses are known to date:

etiology

The cause of oligosaccharidoses are mutations in the genome , which for certain enzymes encoded . This leads to malfunctions in the metabolism of glycosylated proteins ( glycoproteins ), such as membrane or structural proteins . These glycoproteins can no longer be broken down due to the loss of activity of the enzymes. Depending on the enzyme concerned, different products accumulate intracellularly. This leads to similar clinical pictures, but different in course and phenotype .

In the case of sialic acid storage disease, on the other hand, a loss of activity of an anion transporter that removes sialic acid from the lysosome through the lysosomal membrane is the cause of the disease.

The oligosaccharidoses are inherited in an autosomal recessive manner.

Symptoms

Oligosaccharidoses are usually symptomatic even in newborns. Rough facial features, skeletal dystrophies , short stature , neurodegenerative diseases and enlargement of the liver and spleen ( hepatosplenomegaly ) are the most common symptoms. The diseases are progressive .

Diagnosis

The oligosaccharidoses can be diagnosed via the increased concentration of oligosaccharides in the urine and via the determination of the enzymatic activity . A molecular biological diagnosis ( DNA analysis ) is possible.

therapy

No causal therapies for oligosaccharidoses are known to date. Treatment is usually symptomatic. Enzyme replacement therapies (ERT) are either being tested or developed. There is currently no approved ERT for oligosaccharidoses . Gene therapy , which is still in the field of basic research, could enable a cure for oligosaccharidoses in the future.

Individual evidence

  1. ↑ a b C. P. Speer and M. Gahr: Pädiatrie. Verlag Springer, 2004, ISBN 3-540-20791-0 , p. 148.
  2. ↑ a b c M. J. Lentze and K. Heyne: Pädiatrie. Verlag Springer, 2003, ISBN 3-540-43628-6 . Pp. 310-313.
  3. ↑ D. Wang et al.: Short-term, high dose enzyme replacement therapy in sialidosis mice. In: Mol Genet Metab 85, 2005, pp. 181-189. PMID 15979029
  4. ↑ EJ Bonten et al .: Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis. In: FASEB 18, 2004, pp. 971-973. PMID 15084520
  5. ^ V. Gieselmann et al.: Gene therapy: prospects for glycolipid storage diseases. In: Philos Trans R Soc Lond B Biol Sci 358, 2003, pp. 921-925. PMID 12803926

literature