About Alpha-Mannosidosis

What is Alpha-Mannosidosis?

Alpha-Mannosidosis is a rare genetic disorder caused by a deficiency of the enzyme alpha-mannosidase. This enzyme is responsible for breaking down complex sugars in the body. People with alpha-mannosidosis experience a wide range of symptoms, including mental retardation, skeletal abnormalities, hearing loss, and vision problems. There is currently no cure for alpha-mannosidosis, but treatments are available to help manage the symptoms.

What are the symptoms of Alpha-Mannosidosis?

The symptoms of Alpha-Mannosidosis vary depending on the type of the disorder. Common symptoms include:

-Developmental delay

-Intellectual disability

-Delayed motor skills

-Hearing loss

-Vision problems

-Coarse facial features

-Enlarged liver and spleen

-Frequent respiratory infections

-Joint stiffness

-Gait abnormalities


-Behavioral problems

-Skeletal abnormalities

What are the causes of Alpha-Mannosidosis?

Alpha-Mannosidosis is caused by a genetic mutation in the MAN2B1 gene. This gene is responsible for producing an enzyme called alpha-mannosidase, which helps break down certain complex sugars in the body. When this gene is mutated, the enzyme is not produced in sufficient amounts, leading to a buildup of these complex sugars in the body. This can cause a variety of symptoms, including intellectual disability, hearing loss, skeletal abnormalities, and vision problems.

What are the treatments for Alpha-Mannosidosis?

The treatments for Alpha-Mannosidosis vary depending on the severity of the condition and the individual's symptoms. Treatment may include physical therapy, occupational therapy, speech therapy, dietary modifications, and medications to help manage symptoms. In some cases, surgery may be recommended to correct physical deformities or to help improve mobility. In addition, genetic counseling may be recommended to help individuals and families understand the condition and its implications.

What are the risk factors for Alpha-Mannosidosis?

1. Alpha-Mannosidosis is an inherited disorder, so the primary risk factor is having a family history of the disorder.

2. Being of Ashkenazi Jewish descent is also a risk factor for Alpha-Mannosidosis.

3. Having a mutation in the MAN2B1 gene is another risk factor for Alpha-Mannosidosis.

Is there a cure/medications for Alpha-Mannosidosis?

There is currently no cure for Alpha-Mannosidosis, but there are medications that can help manage the symptoms. These medications include enzyme replacement therapy, which helps replace the missing enzyme, and medications to help manage the symptoms of the disorder, such as pain medications, anticonvulsants, and muscle relaxants.