Fucosidosis ( α-L-fucosidase deficiency ) is a rare hereditary disease from the group of lysosomal storage diseases associated with insufficiency of hydrolases that break down polysaccharide bonds. As a result, two classes of macromolecules accumulate inside the cells : glycolipids and glycoproteins [2] . The clinical picture is associated with a mutation leading to damage or deficiency of the enzyme lysosome alpha-L-fucosidase [3] and is characterized by a variety of somatic manifestations and impaired function of the nervous system [2] .
| Fucosidosis | |
|---|---|
 L- Fucose is a part of macromolecules that accumulate in cells as a result of deficiency of the enzyme α-L-fucosidase | |
| ICD-10 | E 77.1 |
| ICD-10-KM | |
| ICD-9 | 271.8 |
| ICD-9-KM | |
| OMIM | 230,000 |
| DiseasesDB | 29471 |
| Mesh | D005645 |
The disease also occurs in animals , for example, described fucosidosis in dogs , in particular English springer spaniels [4] .
Content
Pathogenesis
The development of clinical symptoms is due to a genetic defect - a mutation of the FUCA1 gene located on the short arm of the 1st chromosome (locus 1p36.11), encoding the enzyme lysosome α-L-fucosidase . This enzyme is involved in the breakdown of oligosaccharides that make up glycoproteins [5] .
Inheritance
Α-L-fucosidase deficiency is inherited, like the vast majority of lysosomal storage diseases , according to the autosomal recessive type of inheritance [2] . Therefore, it occurs with equal frequency in both men and women . The disease clinically manifests only when both autosomes , received one from the father and mother, are defective (damage to both copies of the FUCA1 gene located on homologous autosomes, locus 1p36.11 [6] ).
Forecast
Adverse: excessive accumulation of complex carbohydrates inside the cells leads to death in childhood [2] .
See also
- Lysosomal storage diseases
- Parenchymal dystrophies
- Gene diseases
Notes
- ↑ Monarch Disease Ontology release 2018-06-29sonu - 2018-06-29 - 2018.
- ↑ 1 2 3 4 T.R. Harrison. Internal Medicine in 10 books. Book 8. Trans. from English M. , Medicine , 1996, 320 pp.: Silt . Chapter 316. Lysosomal diseases of accumulation (p. 250—273) . med-books.info. Date of treatment January 24, 2015.
- ↑ Genetics home reference . Fucosidosis ghr.nlm.nih.gov. Date of treatment January 24, 2015.
- ↑ Animal genetics . Canine Fucosidosis . horsetesting.com. Date of treatment January 24, 2015.
- ↑ Beratis, NG, Turner, BM, Labadie, G., Hirschhorn, K. (English) . Alpha-L-fucosidase in cultured skin fibroblasts from normal subjects and fucosidosis patients. Pediat. Res. 11: 862-866, 1977. PubMed: 17844 . ncbi.nlm.nih.gov. Date of treatment January 24, 2015.
- ↑ OMIM 230,000