Glycoproteinosis

Glycoproteinosis
Specialty	Endocrinology

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]

Types

• (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 ]}
  • Aspartylglucosaminuria
  • Fucosidosis
  • Mannosidosis
  • Sialidosis (mucolipidosis I)

Another type, recently characterized, is galactosialidosis. ^[3]

References

1. 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.
2. 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.
3. 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

• NIH Archived 2006-09-05 at the Wayback Machine