Beta-mannosidosis
| Beta-mannosidosis | |
|---|---|
| Other names | Beta-mannosidase deficiency, MANSB |
 | |
| This condition is autosomal recessive in inheritance | |
| Specialty | Medical genetics  |
| Symptoms | Respiratory infections, Hearing loss and Intellectual disability.[1] |
| Causes | Mutations in the MANBA gene[2] |
| Diagnostic method | Urine test[3] |
| Treatment | Based on symptoms[4] |
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency,
Symptoms and signs
The initial affected individual described in 1986 had a complex
angiokeratomas).[5]
Most cases are identified in the first year of life with
respiratory infections, hearing loss and intellectual disability. Because of its rarity, and non-specific clinical findings, beta-mannosidosis can go undiagnosed until adulthood, where it can present with intellectual disability and behavioral problems, including aggression.[6][1]
Cause
In terms of causation, several
Mechanism
The pathophysiology of this condition is better comprehended if one first looks at the normal function of beta-mannosidase, such as its function of breaking down disaccharides.[medical citation needed]
Beta-mannosidase function is consistent with it being a
glycoproteins).[8]
Diagnosis
A diagnosis of beta-mannosidosis is suspected based on the person's clinical presentation.
oligosaccharides is a useful screening test, and enzymatic analysis or molecular testing can be used for confirmation.[3]
Differential diagnosis
Diagnostic techniques for this condition can be done to offer a
histochemistry, to distinguish between alpha-mannosidosis and beta-mannosidosis.[9]
Treatment
There is currently no treatment available; individuals exhibiting muscle weakness or
seizures are treated based on symptoms.[4]
See also
- Beta-mannosidase
References
- ^ a b "Mannosidosis, beta A, lysosomal | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2018-01-02. Retrieved 2017-07-13.
- ^ a b c Reference, Genetics Home. "beta-mannosidosis". Genetics Home Reference. Retrieved 2017-07-13.
- ^ ISBN 978-0-07-143915-2.
- ^ ISBN 9780313387135. Retrieved 10 December 2017.
- ^ a b c d Online Mendelian Inheritance in Man (OMIM): 248510
- S2CID 8419283.subscription required
- ^ Reference, Genetics Home. "MANBA gene". Genetics Home Reference. Retrieved 2017-10-25.
- ^ "OMIM Entry - * 609489 - MANNOSIDASE, BETA A, LYSOSOMAL; MANBA". www.omim.org. Retrieved 9 May 2018.
- ISBN 978-0-12-410529-4.
Further reading
- Molho-Pessach, Vered; Bargal, Ruth; Abramowitz, Yigal; Doviner, Victoria; Ingber, Arieh; Raas-Rothschild, Annick; Ne'eman, Zvi; Zeigler, Marsha; Zlotogorski, Abraham (2007). "Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation". Journal of the American Academy of Dermatology. 57 (3): 407–412. PMID 17420068.
- Huynh, T; Khan, JM; Ranganathan, S (30 November 2011). "A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype–phenotype correlation". BMC Genomics. 12 (Suppl 3): S22. PMID 22369051.
External links
Scholia has a topic profile for Beta-mannosidosis.
