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beta-mannosidosis
Sign in to saveAlso known as Beta-D-mannosidosis (disorder), beta-mannosidase deficiency, lysosomal beta-mannosidase deficiency, Beta-D-mannosidosis, MANSB, MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB, MANNOSIDOSIS, BETA A, LYSOSOMAL
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.
Research
178 papers- Beta-Mannosidosis.1993
- Mammalian beta-D-mannosidase and beta-mannosidosis.Biochimie · 1992
- [Beta-mannosidosis].Ryoikibetsu shokogun shirizu · 1998
- Beta-Mannosidosis Is a Cause of Hypomyelination.Pediatric neurology · 2023
- β-Mannosidosis in German Shepherd Dogs.Veterinary pathology · 2019
via PubMed
~3 min read
Encyclopedic overview
10 sectionsContents
- Symptoms and signs
- Cause
- Mechanism
- Diagnosis
- Differential diagnosis
- Treatment
- See also
- References
- Further reading
- External links
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.
==Symptoms and signs== thumb|left|140 px|Angiokeratoma The initial affected individual described in 1986 had a complex phenotype, and was later found to have both beta-mannosidosis and Sanfilippo syndrome. People have been described with a wide spectrum of clinical presentations, from infants and children with intellectual disability to adults who present with isolated skin findings (angiokeratomas).
Excerpted from Wikipedia’s “beta-mannosidosis” article, available under the CC BY-SA 4.0 licence.