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Aspartylglucosaminuria

Aspartylglucosaminuria: Introduction

Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse. More detailed information about the symptoms, causes, and treatments of Aspartylglucosaminuria is available below.

Symptoms of Aspartylglucosaminuria

Treatments for Aspartylglucosaminuria

  • There is no cure and no definitive treatment. Allogenic bone marrow grafts have not proved to be particularly helpful. Symptomatic measures such as anti-seizure medication may be used if seizures develop
  • more treatments...»

Home Diagnostic Testing

Home medical testing related to Aspartylglucosaminuria:

Wrongly Diagnosed with Aspartylglucosaminuria?

Aspartylglucosaminuria: Deaths

Read more about Deaths and Aspartylglucosaminuria.

Aspartylglucosaminuria: Complications

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Causes of Aspartylglucosaminuria

More information about causes of Aspartylglucosaminuria:

Disease Topics Related To Aspartylglucosaminuria

Research the causes of these diseases that are similar to, or related to, Aspartylglucosaminuria:

Aspartylglucosaminuria: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Aspartylglucosaminuria

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Aspartylglucosaminuria: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Prognosis for Aspartylglucosaminuria

Prognosis for Aspartylglucosaminuria: Patients tend to survive until mid-adulthood. Mental retardation and disability may be severe by this stage.

Statistics for Aspartylglucosaminuria

Aspartylglucosaminuria: Broader Related Topics

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Definitions of Aspartylglucosaminuria:

An inborn error of metabolism caused by deficient activity of the enzyme aspartylglucosaminidase. Clinical manifestations consist of psychomotor retardation, coarse facies, hepatosplenomegaly, ventral hernia, and skeletal abnormalities. - (Source - Diseases Database)

Aspartylglucosaminuria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Aspartylglucosaminuria, or a subtype of Aspartylglucosaminuria, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Aspartylglucosaminuria as a "rare disease".
Source - Orphanet

Related Aspartylglucosaminuria Info

Videos about Aspartylglucosaminuria

 

More information about Aspartylglucosaminuria

  1. Aspartylglucosaminuria: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Deaths
  8. Complications
  9. Prognosis
 

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