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
See full list of 37
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
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Home Diagnostic Testing
Home medical testing related to Aspartylglucosaminuria:
- Bladder & Urinary Health: Home Testing:
Wrongly Diagnosed with Aspartylglucosaminuria?
Read more about Deaths and Aspartylglucosaminuria.
Review possible medical complications related to Aspartylglucosaminuria:
Causes of Aspartylglucosaminuria
- The condition is inherited in an autosomal recessive manner
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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
Interstitial cystitis an under-diagnosed bladder condition: The medical
condition of interstitial cystitic is a bladder condition that can be...read more »
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Aspartylglucosaminuria: Research Doctors & Specialists
Research related physicians and medical specialists:
- Urinary & Bladder Specialists (Urology):
- Kidney Health Specialists (Nephrology):
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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.
More about prognosis of Aspartylglucosaminuria
Statistics for Aspartylglucosaminuria
Aspartylglucosaminuria: Broader Related Topics
Types of Aspartylglucosaminuria
User Interactive Forums
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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
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