Beta-mannosidosis: Difference between revisions
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{{Infobox medical condition | |||
| name = Beta-mannosidosis | |||
| synonyms = [[Beta-mannosidase deficiency]] | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[hearing loss]], [[recurrent infections]], [[dysostosis multiplex]], [[angiokeratoma]] | |||
| onset = [[Infancy]] or [[childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[MANBA]] gene | |||
| risks = [[Autosomal recessive]] inheritance | |||
| diagnosis = [[Genetic testing]], [[enzyme assay]] | |||
| differential = [[Other lysosomal storage disorders]] | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| prognosis = [[Variable]], depends on severity | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare genetic disorder affecting glycoprotein metabolism}} | {{Short description|A rare genetic disorder affecting glycoprotein metabolism}} | ||
'''Beta-mannosidosis''' is a rare [[lysosomal storage disorder]] caused by a deficiency of the enzyme beta-mannosidase. This enzyme deficiency leads to the accumulation of mannose-containing [[oligosaccharides]] in the body, resulting in a variety of clinical symptoms. | '''Beta-mannosidosis''' is a rare [[lysosomal storage disorder]] caused by a deficiency of the enzyme beta-mannosidase. This enzyme deficiency leads to the accumulation of mannose-containing [[oligosaccharides]] in the body, resulting in a variety of clinical symptoms. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Beta-mannosidosis is an [[autosomal recessive]] disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The condition is caused by mutations in the MANBA gene, which encodes the enzyme beta-mannosidase. This enzyme is responsible for breaking down complex sugars in the [[lysosome]], a cellular organelle involved in the degradation of macromolecules. | Beta-mannosidosis is an [[autosomal recessive]] disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The condition is caused by mutations in the MANBA gene, which encodes the enzyme beta-mannosidase. This enzyme is responsible for breaking down complex sugars in the [[lysosome]], a cellular organelle involved in the degradation of macromolecules. | ||
In individuals with beta-mannosidosis, the lack of functional beta-mannosidase leads to the accumulation of mannose-rich oligosaccharides in various tissues, including the [[central nervous system]], [[kidneys]], and [[liver]]. This accumulation disrupts normal cellular function and leads to the clinical manifestations of the disease. | In individuals with beta-mannosidosis, the lack of functional beta-mannosidase leads to the accumulation of mannose-rich oligosaccharides in various tissues, including the [[central nervous system]], [[kidneys]], and [[liver]]. This accumulation disrupts normal cellular function and leads to the clinical manifestations of the disease. | ||
==Clinical Features== | ==Clinical Features== | ||
The symptoms of beta-mannosidosis can vary widely among affected individuals, but common features include: | The symptoms of beta-mannosidosis can vary widely among affected individuals, but common features include: | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Hearing loss]] | * [[Hearing loss]] | ||
| Line 17: | Line 28: | ||
* [[Recurrent infections]] | * [[Recurrent infections]] | ||
* [[Skeletal abnormalities]] | * [[Skeletal abnormalities]] | ||
The severity of symptoms can range from mild to severe, and the age of onset can vary from infancy to adulthood. | The severity of symptoms can range from mild to severe, and the age of onset can vary from infancy to adulthood. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of beta-mannosidosis is typically based on clinical evaluation, biochemical testing, and genetic analysis. Biochemical testing involves measuring the activity of beta-mannosidase in leukocytes or fibroblasts. Genetic testing can confirm the diagnosis by identifying mutations in the MANBA gene. | Diagnosis of beta-mannosidosis is typically based on clinical evaluation, biochemical testing, and genetic analysis. Biochemical testing involves measuring the activity of beta-mannosidase in leukocytes or fibroblasts. Genetic testing can confirm the diagnosis by identifying mutations in the MANBA gene. | ||
==Treatment== | ==Treatment== | ||
Currently, there is no cure for beta-mannosidosis, and treatment is primarily supportive and symptomatic. Management may include: | Currently, there is no cure for beta-mannosidosis, and treatment is primarily supportive and symptomatic. Management may include: | ||
* [[Physical therapy]] and [[occupational therapy]] to improve motor skills | * [[Physical therapy]] and [[occupational therapy]] to improve motor skills | ||
* [[Speech therapy]] to address communication difficulties | * [[Speech therapy]] to address communication difficulties | ||
* [[Hearing aids]] or other interventions for hearing loss | * [[Hearing aids]] or other interventions for hearing loss | ||
* Regular monitoring and treatment of infections | * Regular monitoring and treatment of infections | ||
Research into potential therapies, such as enzyme replacement therapy and gene therapy, is ongoing. | Research into potential therapies, such as enzyme replacement therapy and gene therapy, is ongoing. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with beta-mannosidosis varies depending on the severity of the condition. Some individuals may lead relatively normal lives with appropriate supportive care, while others may experience significant disability. | The prognosis for individuals with beta-mannosidosis varies depending on the severity of the condition. Some individuals may lead relatively normal lives with appropriate supportive care, while others may experience significant disability. | ||
==Related pages== | ==Related pages== | ||
* [[Lysosomal storage disorder]] | * [[Lysosomal storage disorder]] | ||
* [[Autosomal recessive disorder]] | * [[Autosomal recessive disorder]] | ||
* [[Enzyme replacement therapy]] | * [[Enzyme replacement therapy]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Lysosomal storage diseases]] | [[Category:Lysosomal storage diseases]] | ||
Latest revision as of 22:20, 3 April 2025
| Beta-mannosidosis | |
|---|---|
| Synonyms | Beta-mannosidase deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Intellectual disability, hearing loss, recurrent infections, dysostosis multiplex, angiokeratoma |
| Complications | N/A |
| Onset | Infancy or childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the MANBA gene |
| Risks | Autosomal recessive inheritance |
| Diagnosis | Genetic testing, enzyme assay |
| Differential diagnosis | Other lysosomal storage disorders |
| Prevention | N/A |
| Treatment | Supportive care, symptomatic treatment |
| Medication | N/A |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | N/A |
A rare genetic disorder affecting glycoprotein metabolism
Beta-mannosidosis is a rare lysosomal storage disorder caused by a deficiency of the enzyme beta-mannosidase. This enzyme deficiency leads to the accumulation of mannose-containing oligosaccharides in the body, resulting in a variety of clinical symptoms.
Pathophysiology[edit]
Beta-mannosidosis is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The condition is caused by mutations in the MANBA gene, which encodes the enzyme beta-mannosidase. This enzyme is responsible for breaking down complex sugars in the lysosome, a cellular organelle involved in the degradation of macromolecules. In individuals with beta-mannosidosis, the lack of functional beta-mannosidase leads to the accumulation of mannose-rich oligosaccharides in various tissues, including the central nervous system, kidneys, and liver. This accumulation disrupts normal cellular function and leads to the clinical manifestations of the disease.
Clinical Features[edit]
The symptoms of beta-mannosidosis can vary widely among affected individuals, but common features include:
- Intellectual disability
- Hearing loss
- Speech delay
- Motor dysfunction
- Recurrent infections
- Skeletal abnormalities
The severity of symptoms can range from mild to severe, and the age of onset can vary from infancy to adulthood.
Diagnosis[edit]
Diagnosis of beta-mannosidosis is typically based on clinical evaluation, biochemical testing, and genetic analysis. Biochemical testing involves measuring the activity of beta-mannosidase in leukocytes or fibroblasts. Genetic testing can confirm the diagnosis by identifying mutations in the MANBA gene.
Treatment[edit]
Currently, there is no cure for beta-mannosidosis, and treatment is primarily supportive and symptomatic. Management may include:
- Physical therapy and occupational therapy to improve motor skills
- Speech therapy to address communication difficulties
- Hearing aids or other interventions for hearing loss
- Regular monitoring and treatment of infections
Research into potential therapies, such as enzyme replacement therapy and gene therapy, is ongoing.
Prognosis[edit]
The prognosis for individuals with beta-mannosidosis varies depending on the severity of the condition. Some individuals may lead relatively normal lives with appropriate supportive care, while others may experience significant disability.
