Mannosidosis: Difference between revisions
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{{Infobox medical condition | |||
| name = Mannosidosis | |||
| image = [[File:Alpha-mannosidosis_electron_micrograph.JPEG|250px]] | |||
| caption = Electron micrograph of a cell affected by alpha-mannosidosis | |||
| synonyms = Alpha-mannosidosis, Beta-mannosidosis | |||
| pronounce = | |||
| specialty = [[Genetics]], [[Metabolic disorders]] | |||
| symptoms = Intellectual disability, skeletal abnormalities, hearing loss | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| types = [[Alpha-mannosidosis]], [[Beta-mannosidosis]] | |||
| causes = [[Genetic mutation]] in the [[MAN2B1]] or [[MANBA]] gene | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[Enzyme assay]] | |||
| differential = [[Lysosomal storage disorders]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Enzyme replacement therapy]], [[Hematopoietic stem cell transplantation]] | |||
| medication = | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
}} | |||
'''Mannosidosis''' is a [[lysosomal storage disease]] that is categorized as a [[rare disease]]. It is caused by the deficiency of the [[enzyme]] [[alpha-mannosidase]], which results in the accumulation of mannose-rich oligosaccharides in the cells. This accumulation leads to a variety of symptoms, including [[intellectual disability]], [[hearing loss]], and [[skeletal abnormalities]]. | '''Mannosidosis''' is a [[lysosomal storage disease]] that is categorized as a [[rare disease]]. It is caused by the deficiency of the [[enzyme]] [[alpha-mannosidase]], which results in the accumulation of mannose-rich oligosaccharides in the cells. This accumulation leads to a variety of symptoms, including [[intellectual disability]], [[hearing loss]], and [[skeletal abnormalities]]. | ||
== Classification == | == Classification == | ||
Mannosidosis is classified into two types: [[Alpha-mannosidosis]] and [[Beta-mannosidosis]]. Alpha-mannosidosis is further divided into three types based on the age of onset and severity of symptoms: Type I (mild), Type II (moderate), and Type III (severe). | Mannosidosis is classified into two types: [[Alpha-mannosidosis]] and [[Beta-mannosidosis]]. Alpha-mannosidosis is further divided into three types based on the age of onset and severity of symptoms: Type I (mild), Type II (moderate), and Type III (severe). | ||
== Symptoms == | == Symptoms == | ||
The symptoms of mannosidosis vary widely and can include [[developmental delay]], [[mental retardation]], [[hearing impairment]], [[muscular weakness]], [[hydrocephalus]], [[hepatomegaly]], and [[skeletal deformities]]. Some individuals may also have [[immune deficiency]], leading to recurrent infections. | The symptoms of mannosidosis vary widely and can include [[developmental delay]], [[mental retardation]], [[hearing impairment]], [[muscular weakness]], [[hydrocephalus]], [[hepatomegaly]], and [[skeletal deformities]]. Some individuals may also have [[immune deficiency]], leading to recurrent infections. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of mannosidosis is based on the clinical symptoms, [[biochemical analysis]] of urine and blood, and [[genetic testing]]. The definitive diagnosis is made by measuring the activity of the alpha-mannosidase enzyme in the blood or skin cells. | Diagnosis of mannosidosis is based on the clinical symptoms, [[biochemical analysis]] of urine and blood, and [[genetic testing]]. The definitive diagnosis is made by measuring the activity of the alpha-mannosidase enzyme in the blood or skin cells. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for mannosidosis. Treatment is supportive and aims to manage the symptoms. This may include [[physical therapy]], [[speech therapy]], and [[occupational therapy]] for developmental delays, and [[hearing aids]] for hearing loss. In some cases, [[enzyme replacement therapy]] may be used. | There is currently no cure for mannosidosis. Treatment is supportive and aims to manage the symptoms. This may include [[physical therapy]], [[speech therapy]], and [[occupational therapy]] for developmental delays, and [[hearing aids]] for hearing loss. In some cases, [[enzyme replacement therapy]] may be used. | ||
== See also == | == See also == | ||
* [[Lysosomal storage disease]] | * [[Lysosomal storage disease]] | ||
* [[Alpha-mannosidosis]] | * [[Alpha-mannosidosis]] | ||
* [[Beta-mannosidosis]] | * [[Beta-mannosidosis]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Lysosomal storage diseases]] | [[Category:Lysosomal storage diseases]] | ||
[[Category:Genetic diseases]] | [[Category:Genetic diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 04:43, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Mannosidosis | |
|---|---|
| |
| Synonyms | Alpha-mannosidosis, Beta-mannosidosis |
| Pronounce | |
| Specialty | Genetics, Metabolic disorders |
| Symptoms | Intellectual disability, skeletal abnormalities, hearing loss |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | Alpha-mannosidosis, Beta-mannosidosis |
| Causes | Genetic mutation in the MAN2B1 or MANBA gene |
| Risks | Family history |
| Diagnosis | Genetic testing, Enzyme assay |
| Differential diagnosis | Lysosomal storage disorders |
| Prevention | Genetic counseling |
| Treatment | Enzyme replacement therapy, Hematopoietic stem cell transplantation |
| Medication | |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | N/A |
Mannosidosis is a lysosomal storage disease that is categorized as a rare disease. It is caused by the deficiency of the enzyme alpha-mannosidase, which results in the accumulation of mannose-rich oligosaccharides in the cells. This accumulation leads to a variety of symptoms, including intellectual disability, hearing loss, and skeletal abnormalities.
Classification[edit]
Mannosidosis is classified into two types: Alpha-mannosidosis and Beta-mannosidosis. Alpha-mannosidosis is further divided into three types based on the age of onset and severity of symptoms: Type I (mild), Type II (moderate), and Type III (severe).
Symptoms[edit]
The symptoms of mannosidosis vary widely and can include developmental delay, mental retardation, hearing impairment, muscular weakness, hydrocephalus, hepatomegaly, and skeletal deformities. Some individuals may also have immune deficiency, leading to recurrent infections.
Diagnosis[edit]
Diagnosis of mannosidosis is based on the clinical symptoms, biochemical analysis of urine and blood, and genetic testing. The definitive diagnosis is made by measuring the activity of the alpha-mannosidase enzyme in the blood or skin cells.
Treatment[edit]
There is currently no cure for mannosidosis. Treatment is supportive and aims to manage the symptoms. This may include physical therapy, speech therapy, and occupational therapy for developmental delays, and hearing aids for hearing loss. In some cases, enzyme replacement therapy may be used.
