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About Aspartylglycosaminuria

What is Aspartylglycosaminuria?

Aspartylglycosaminuria (AGU) is a rare inherited metabolic disorder caused by a deficiency of the enzyme aspartylglucosaminidase. It is characterized by the accumulation of certain complex carbohydrates in the body, which can lead to physical and mental disabilities. Symptoms of AGU include developmental delays, intellectual disability, seizures, and behavioral problems.

What are the symptoms of Aspartylglycosaminuria?

The symptoms of Aspartylglycosaminuria (AGU) vary from person to person, but can include:

-Delayed development

-Intellectual disability

-Speech and language delays

-Behavioral problems


-Movement problems

-Growth delays

-Facial abnormalities

-Hearing loss

-Vision problems

-Heart defects

-Kidney problems

-Liver problems

-Skeletal abnormalities

-Skin abnormalities

What are the causes of Aspartylglycosaminuria?

Aspartylglycosaminuria (AGU) is a rare genetic disorder caused by a mutation in the gene that codes for the enzyme aspartylglucosaminidase (AGA). This mutation results in a deficiency of the enzyme, which is responsible for breaking down certain complex sugars in the body. Without this enzyme, these sugars accumulate in the body, leading to the symptoms of AGU.

What are the treatments for Aspartylglycosaminuria?

Currently, there is no cure for Aspartylglycosaminuria. However, treatments are available to help manage the symptoms and improve quality of life. These treatments include:

1. Dietary modifications: A low-aspartic acid diet may help reduce the accumulation of aspartic acid in the body.

2. Enzyme replacement therapy: This involves the administration of an enzyme that can break down aspartic acid.

3. Physical therapy: This can help improve mobility and reduce the risk of falls.

4. Occupational therapy: This can help improve daily living skills and independence.

5. Speech therapy: This can help improve communication skills.

6. Behavioral therapy: This can help manage behavioral issues.

7. Medications: Certain medications may be prescribed to help manage seizures, anxiety, and

What are the risk factors for Aspartylglycosaminuria?

1. Aspartylglycosaminuria 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 Aspartylglycosaminuria.

3. Having a parent who is a carrier of the gene mutation associated with Aspartylglycosaminuria is also a risk factor.

Is there a cure/medications for Aspartylglycosaminuria?

At this time, there is no cure for Aspartylglycosaminuria (AGU). However, there are medications and treatments available to help manage the symptoms of AGU. These include enzyme replacement therapy, dietary modifications, physical therapy, and speech therapy. Additionally, medications such as cholinesterase inhibitors and memantine may be prescribed to help improve cognitive functioning.