Mucolipidoses ( eng. ML ) is the collective name for a group of hereditary diseases related to lysosomal storage diseases associated with a deficiency of an enzyme (often a decrease in hydrolase activity) [1] [2] . A heterogeneous group of diseases that combines the manifestations of insufficiency of one of the enzymes of lysosomes , the result of which is a certain combination of accumulation of mucopolysaccharides , glycoproteins , oligosaccharides and glycolipids inside the cells of the body [3] . Initially, this group of gene diseases, the clinical picture of which is associated with a violation of the normal catabolism of various substrates within the cells, was named by analogy with other hereditary diseases of accumulation (for example, mucopolysaccharidoses and sphingolipidoses ) [4] . The discovery of biochemical processes, the defect of which led to the development of one or another type of mucolipidosis, made an adjustment to the classification. Initially, the first four types ( I , II , III , and IV ) were labeled as mucolipidoses . However, now type I mucolipidosis ( sialidosis ) is classified as glycoproteinosis [4] ( E 77.1 ), and type IV mucolipidosis ( sialolipidosis ) as gangliosidosis ( E 75.1 ) [5] .
| Mucolipidoses | |
|---|---|
| ICD-10 | E 77.0 - E 77.1 E 75.1 |
| ICD-9 | 272.7 |
| Mesh | D009081 |
Content
Inheritance
This group of diseases is inherited, like the vast majority of lysosomal storage diseases , according to the autosomal recessive type of inheritance [3] . Thus, it occurs with equal frequency in both men and women .
The autosomal recessive type of inheritance in practice means that the defective gene is located on one of two allelic autosomes . A disease clinically manifests itself only when both autosomes, obtained one from the father and mother, are defective in this gene. As in all cases of autosomal recessive inheritance, if both parents carry a defective gene, then the probability of inheriting the disease in the offspring is 1 out of 4. Thus, on average, there are three without any clinical signs of manifestations of a gene disease for one sick child in such a family. In the diagram, healthy ones are marked in blue, carriers of the defective gene in purple, and a sick child in red (two defective genes of the same allele). The normal gene is marked with a blue circle and a defective gene with red.
Classification
Initially, the group of mucolipidoses included [3] [6] [7] :
- mucolipidosis I ( sialidosis )
- mucolipidosis II ( I-cell disease )
- mucolipidosis III ( pseudopolydystrophy Hurler )
- mucolipidosis IV ( sialolipidosis )
According to the International classification of diseases of the tenth revision ( ICD-10 ), distinguish:
- E 75. Disorders of sphingolipid metabolism and other diseases of lipid accumulation.
- E 75.1 Other gangliosidoses . Gangliosidosis GM 1 , Mucolipidosis IV .
- E 77. Disorders of glycoprotein metabolism.
- E 77.0 Defects of post-translational modification of lysosomal enzymes. Mucolipidosis II ( I-cell disease ), Mucolipidosis III ( pseudopolydystrophy Hurler ).
- E 77.1 Defects in the degradation of glycoproteins . Aspartylglucosaminuria . Fucosidosis Mannosidosis Sialidosis ( mucolipidosis I )
See also
- Lysosomal storage diseases
- Parenchymal dystrophies
Notes
- ↑ Medical Encyclopedia: Mucolipidoses
- ↑ Nilius B., Owsianik G., Voets T., Peters JA Transient receptor potential cation channels in disease (Eng.) // Physiological Reviews : journal. - 2007. - Vol. 87 , no. 1 . - P. 165-217 . - DOI : 10.1152 / physrev.00021.2006 . - PMID 17237345 . (eng.)
- ↑ 1 2 3 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 10, 2015.
- ↑ 1 2 Oski's pediatrics: principles & practice . - Lippincott Williams & Wilkins, April 1, 2006. - P. 1–. - ISBN 978-0-7817-3894-1 . (eng.)
- ↑ ICD-10 . Date of treatment November 28, 2014. (English)
- ↑ W. Hort: Pathologie des Endokard, der Kranzarterien und des Myokard. Verlag Springer, 2000, ISBN 3-540-65326-0 , S. 1350-1351. (German)
- ↑ NINDS: (English) (inaccessible link) . Mucolipidoses . ninds.nih.gov. Date of treatment January 10, 2015. Archived January 10, 2015.