Beta-mannosidosis
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Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency,[5] 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.[5] 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.[3][2]
Quick Facts Other names, Specialty ...
Beta-mannosidosis | |
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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] |
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