25

Aspartylglycosaminuria synonyms

What other names are the Aspartylglycosaminuria known by? Synonyms and other terms with which Aspartylglycosaminuria is known.

Aspartylglycosaminuria is also known as...

Aspartylglycosaminuria, also known as AGU, is a rare genetic disorder that affects the metabolism of certain sugars and proteins in the body. It is classified as a lysosomal storage disorder, which means that certain substances accumulate within the lysosomes of cells, leading to various symptoms and complications.



Synonyms


Aspartylglycosaminuria is commonly referred to by several synonyms, including:




  • AGU

  • Aspartylglucosaminidase deficiency

  • Aspartylglucosaminuria

  • Aspartylglucosaminuria syndrome

  • Aspartylglucosaminiduria



Clinical Presentation


Individuals with aspartylglycosaminuria may exhibit a wide range of symptoms, which can vary in severity. Common clinical features include:




  • Developmental delay

  • Intellectual disability

  • Coarse facial features

  • Joint stiffness

  • Enlarged liver and spleen

  • Behavioral problems

  • Speech difficulties

  • Seizures



Diagnosis and Treatment


Diagnosing aspartylglycosaminuria typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Enzyme activity assays and molecular genetic testing can help confirm the diagnosis.



Currently, there is no cure for aspartylglycosaminuria. Treatment primarily focuses on managing the symptoms and improving the quality of life for affected individuals. This may involve a multidisciplinary approach, including physical therapy, speech therapy, educational support, and genetic counseling.



Prognosis


The long-term outlook for individuals with aspartylglycosaminuria varies depending on the severity of the condition and the availability of supportive care. Early diagnosis and intervention can significantly improve outcomes and help individuals reach their full potential.


Diseasemaps
1 answer

Aspartylglycosaminuria is also known as...

Aspartylglycosaminuria life expectancy

What is the life expectancy of someone with Aspartylglycosaminuria?

2 answers
Celebrities with Aspartylglycosaminuria

Celebrities with Aspartylglycosaminuria

1 answer
Is Aspartylglycosaminuria hereditary?

Is Aspartylglycosaminuria hereditary?

2 answers
Is Aspartylglycosaminuria contagious?

Is Aspartylglycosaminuria contagious?

2 answers
Natural treatment of Aspartylglycosaminuria

Is there any natural treatment for Aspartylglycosaminuria?

ICD9 and ICD10 codes of Aspartylglycosaminuria

ICD10 code of Aspartylglycosaminuria and ICD9 code

2 answers
Living with Aspartylglycosaminuria

Living with Aspartylglycosaminuria. How to live with Aspartylglycosaminuria...

1 answer
Aspartylglycosaminuria diet

Aspartylglycosaminuria diet. Is there a diet which improves the quality of ...

1 answer

World map of Aspartylglycosaminuria

Find people with Aspartylglycosaminuria through the map. Connect with them and share experiences. Join the Aspartylglycosaminuria community.

Stories of Aspartylglycosaminuria

ASPARTYLGLYCOSAMINURIA STORIES

Tell your story and help others

Tell my story

Aspartylglycosaminuria forum

ASPARTYLGLYCOSAMINURIA FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map