Mannosidosis

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Obesity, Sleep & Internal medicine
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Mannosidosis
Synonyms	Alpha-mannosidosis, Beta-mannosidosis
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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

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

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 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

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

• Lysosomal storage disease
• Alpha-mannosidosis
• Beta-mannosidosis