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Aspartylglycosaminuria: Introduction

Aspartylglycosaminuria: 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 Aspartylglycosaminuria is available below.

Symptoms of Aspartylglycosaminuria

Treatments for Aspartylglycosaminuria

  • 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

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Wrongly Diagnosed with Aspartylglycosaminuria?

Aspartylglycosaminuria: Deaths

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Aspartylglycosaminuria: Complications

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Causes of Aspartylglycosaminuria

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Disease Topics Related To Aspartylglycosaminuria

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

Aspartylglycosaminuria: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Aspartylglycosaminuria

Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases, because it may cause only mild or even absent symptoms. Although the more »

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or Alzheimer's disease, more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it can be over-diagnosed more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is more »

Interstitial cystitis an under-diagnosed bladder condition: The medical condition of interstitial cystitic is a bladder condition that can be misdiagnosed as various conditions such as overactive bladder or other more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed as Parkinson's disease or more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in more »

Aspartylglycosaminuria: Research Doctors & Specialists

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Hospitals & Clinics: Aspartylglycosaminuria

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Choosing the Best Hospital: More general information, not necessarily in relation to Aspartylglycosaminuria, on hospital performance and surgical care quality:

Aspartylglycosaminuria: Rare Types

Rare types of diseases and disorders in related medical categories:

Aspartylglycosaminuria: Animations

Prognosis for Aspartylglycosaminuria

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

Statistics for Aspartylglycosaminuria

Aspartylglycosaminuria: Broader Related Topics

User Interactive Forums

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Definitions of Aspartylglycosaminuria:

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


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