Beta-mannosidosis is a rare autosomal recessive inherited disease from the group of lysosomal storage diseases associated with impaired oligosaccharide metabolism as a result of a decrease in the activity of beta-mannosidase lysosome enzyme [3] .
| Beta mannosidosis | |
|---|---|
 Torso angiokeratoma - a clinical sign associated with β-mannosidosis [1] | |
| ICD-10 | E 77.1 |
| ICD-10-KM | |
| ICD-9 | 271 |
| ICD-9-KM | |
| Omim | 248510 |
| Diseasesdb | 34529 |
| Mesh | D044905 |
Content
Epidemiology
Pathogenesis
A genetically determined defect in the enzyme β-mannosidase , which is involved in the breakdown of complex carbohydrates in lysosomes, leads to the accumulation of metabolites inside the cell with subsequent impairment of its function. This enzyme is encoded by the MANBA gene, which is located on the long arm of the 4th chromosome ( locus 4q22-25).
Inheritance
Mannosidosis is inherited, like the vast majority of lysosomal storage diseases , according to the autosomal recessive type of inheritance [3] [4] . 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 MANBA gene located on homologous autosomes, locus 4q22-25).
Clinical picture
Newborn patients seem healthy, and the development of the disease is characterized by a variety of clinical manifestations. The onset of the infantile form of the disease is characterized by the presence of more pronounced manifestations of neurodegeneration, up to the development of intellectual disability in some children. Hearing loss and the presence of angiokeratom [1] are the most common signs of the disease. However, due to the fact that this genetic pathology is extremely rare, the complete phenotype of the disease has not been fully studied [5] .
As a result of its rarity and non-specificity of clinical manifestations, the diagnosis of β-mannosidosis can be established late. Cases of retrospective diagnosis in adult patients are described against the background of the formed intellectual disability, accompanied by behavioral disorders , including aggression [6] .
See also
- Mannosidosis
- α-mannosidosis
- Gene diseases
- Parenchymal dystrophies
- Lysosomal storage diseases
Notes
- ↑ 1 2 Rodriguez-Serna, M., Botella-Estrada, R., Chabas, A., Coll, M.-J., Oliver, V., Febrer, M.-I., Aliaga, A. Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency. Arch. Derm. 132: 1219-1222, 1996. PubMed: 8859034 . ncbi.nlm.nih.gov. Date of treatment January 23, 2015.
- ↑ Monarch Disease Ontology release 2018-06-29sonu - 2018-06-29 - 2018.
- ↑ 1 2 OMIM 248510
- ↑ 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 23, 2015.
- ↑ Enns, Gregory M. Lysosomal Disorders // Pediatric Endocrinology and Inborn Errors of Metabolism / Gregory M. Enns, Robert D. Steiner, Tina M. Cowan. - 1st. - New York: McGraw-Hill Medical, 2009 .-- P. 721-755. - ISBN 978-0-07-143915-2 .
- ↑ Sedel F. , Baumann N. , Turpin JC , Lyon-Caen O. , Saudubray JM , Cohen D. Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. (Eng.) // Journal of inherited metabolic disease. - 2007. - Vol. 30, no. 5 . - P. 631-641. - DOI : 10.1007 / s10545-007-0661-4 . - PMID 17694356 .