Glycoproteinosis are
lysosomal storage diseases
affecting
glycoproteins
Glycoproteins are proteins which contain oligosaccharide (sugar) chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known a ...
, resulting from defects in
lysosomal function. The term is sometimes reserved for conditions involving degradation of glycoproteins.
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Types
* (E77.0) Defects in
post-translational modification
In molecular biology, post-translational modification (PTM) is the covalent process of changing proteins following protein biosynthesis. PTMs may involve enzymes or occur spontaneously. Proteins are created by ribosomes, which translation (biolog ...
of
lysosomal enzymes
**
Mucolipidosis
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.
When originally named, the mucolipidoses derived their name from the similarity in p ...
II (I-cell disease)
**
Mucolipidosis
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.
When originally named, the mucolipidoses derived their name from the similarity in p ...
III (pseudo-Hurler polydystrophy)
* (E77.1) Defects in
glycoprotein
Glycoproteins are proteins which contain oligosaccharide (sugar) chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known a ...
degradation
**
Aspartylglucosaminuria
**
Fucosidosis
**
Mannosidosis
**
Sialidosis
Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). The lack of this enzyme results in an abnormal accumulation of complex carbohydrates kno ...
(
mucolipidosis
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.
When originally named, the mucolipidoses derived their name from the similarity in p ...
I)
Another type, recently characterized, is
galactosialidosis.
References
External links
NIH
Glycoprotein metabolism disorders
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