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. |
| Causes | Mutations in the MANBA gene |
| Diagnostic method | Urine test |
| Treatment | Based on symptoms |
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by decreased activity of the enzyme beta-mannosidase. This enzyme is coded for by the gene MANBA, located at 4q22-25. Beta-mannosidosis is inherited in an autosomal recessive manner. Affected individuals appear normal at birth, and can have a variable clinical presentation. Infantile onset forms show severe neurodegeneration, while some children have intellectual disability. Hearing loss and angiokeratomas are common features of the disease.