Glycoproteinosis are lysosomal storage diseases[1] affecting glycoproteins, resulting from defects in lysosomal function. The term is sometimes reserved for conditions involving degradation of glycoproteins.[2]
| Glycoproteinosis | |
|---|---|
| Specialty | Endocrinology  |
Types
edit- (E77.0) Defects in post-translational modification of lysosomal enzymes[citation needed]
- Mucolipidosis II (I-cell disease)
- Mucolipidosis III (pseudo-Hurler polydystrophy)
- (E77.1) Defects in glycoprotein degradation[citation needed]
Another type, recently characterized, is galactosialidosis.[3]
References
edit- ^ Charles H. Rodeck; Martin J. Whittle (27 October 2008). Fetal medicine: basic science and clinical practice. Elsevier Health Sciences. pp. 362–. ISBN 978-0-443-10408-4. Retrieved 3 November 2010.
- ^ Robert V. Stick; Spencer J. Williams (2 December 2008). Carbohydrates: the essential molecules of life. Elsevier. pp. 402–. ISBN 978-0-240-52118-3. Retrieved 3 November 2010.
- ^ Bonten EJ, Wang D, Toy JN, et al. (June 2004). "Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis". FASEB J. 18 (9): 971–3. doi:10.1096/fj.03-0941fje. PMID 15084520.
External links
edit- NIH Archived 2006-09-05 at the Wayback Machine
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