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
See full list of 40
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
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Home Diagnostic Testing
Home medical testing related to Aspartylglycosaminuria:
- Child Behavior: Home Testing
- Child General Health: Home Testing
Wrongly Diagnosed with Aspartylglycosaminuria?
Read more about Deaths and Aspartylglycosaminuria.
Review possible medical complications related to Aspartylglycosaminuria:
Causes of Aspartylglycosaminuria
- The condition is inherited in an autosomal recessive manner
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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 most...read 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 inability...read 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,
it...read 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
...read 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 pressure....read 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, or...read 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 particularly...read 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 ...read 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 ...read 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 of...read 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 children...read more »
Read more about Misdiagnosis and Aspartylglycosaminuria
Aspartylglycosaminuria: Research Doctors & Specialists
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Hospitals & Clinics: Aspartylglycosaminuria
Research quality ratings and patient safety measures
for medical facilities in specialties related to Aspartylglycosaminuria:
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Choosing the Best Hospital:
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on hospital performance and surgical care quality:
Aspartylglycosaminuria: Rare Types
Rare types of diseases and disorders in related medical categories:
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Prognosis for Aspartylglycosaminuria
Prognosis for Aspartylglycosaminuria:
Patients tend to survive until mid-adulthood. Mental retardation and disability may be severe by this stage.
More about prognosis of Aspartylglycosaminuria
Statistics for Aspartylglycosaminuria
Aspartylglycosaminuria: Broader Related Topics
Types of Aspartylglycosaminuria
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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)
Contents for Aspartylglycosaminuria: