Glycoproteinosis

Glycoproteinosis
Classification and external resources
Specialty	endocrinology
ICD-10	E77
ICD-9-CM	271, 272.7

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
- Mucolipidosis II (I-cell disease)
- Mucolipidosis III (pseudo-Hurler polydystrophy)
(E77.1) Defects in glycoprotein degradation

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

References

↑ 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

NIH
ISMRD

(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)

Anabolism	Dolichol kinase deficiency Congenital disorder of glycosylation

Post-translational modification of lysosomal enzymes	Mucolipidosis: I-cell disease/II Pseudo-Hurler polydystrophy/III

Catabolism	Aspartylglucosaminuria Fucosidosis mannosidosis Alpha-mannosidosis Beta-mannosidosis Sialidosis Schindler disease

Other	solute carrier family (Salla disease) Galactosialidosis

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