Glycoproteinosis
Encyclopedia
Glycoproteinosis are lysosomal storage disease
s affecting glycoproteins, resulting from defects in lysosomal
function. The term is sometimes reserved for conditions involving degradation of glycoproteins.
Another type, recently characterized, is galactosialidosis
.
Lysosomal storage disease
Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function...
s affecting glycoproteins, resulting from defects in lysosomal
Lysosome
thumb|350px|Schematic of typical animal cell, showing subcellular components. [[Organelle]]s: [[nucleoli]] [[cell nucleus|nucleus]] [[ribosomes]] [[vesicle |vesicle]] rough [[endoplasmic reticulum]]...
function. The term is sometimes reserved for conditions involving degradation of glycoproteins.
Types
- (E77.0) Defects in post-translational modification of lysosomal enzymes
- MucolipidosisMucolipidosisMucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells....
II (I-cell disease) - MucolipidosisMucolipidosisMucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells....
III (pseudo-Hurler polydystrophy)
- Mucolipidosis
- (E77.1) Defects in glycoproteinGlycoproteinGlycoproteins are proteins that contain oligosaccharide chains covalently attached to polypeptide side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. In proteins that have segments extending...
degradationChemical decompositionChemical decomposition, analysis or breakdown is the separation of a chemical compound into elements or simpler compounds. It is sometimes defined as the exact opposite of a chemical synthesis. Chemical decomposition is often an undesired chemical reaction...
- AspartylglucosaminuriaAspartylglucosaminuriaAspartylglucosaminuria , also called aspartylglycosaminuria, is a rare, autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase . This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
- FucosidosisFucosidosisFucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...
- MannosidosisMannosidosisMannosidosis is a deficiency in mannosidase, an enzyme.There are two types:* Alpha-mannosidosis* Beta-mannosidosis...
- SialidosisSialidosisMucolipidosis type I or sialidosis is an inherited lysosomal storage disease that results from a deficiency of the enzyme sialidase. The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids...
(mucolipidosisMucolipidosisMucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells....
I)
- Aspartylglucosaminuria
Another type, recently characterized, is galactosialidosis
Galactosialidosis
Galactosialidosis is a lysosomal storage disease.It is associated with cathepsin A.-External links:*...
.