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
- more treatments...»
Read more about treatments for Aspartylglycosaminuria
Home Diagnostic Testing
Home medical testing related to Aspartylglycosaminuria:
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
- more causes...»
Read more about causes of Aspartylglycosaminuria
More information about causes of Aspartylglycosaminuria:
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 common symptoms are anal itch ...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 to speak.
This was initially misdiagnosed as a ...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,...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
(it can, of course, also fail to be 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...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 even those causing a mild ...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 true of mild traumatic brain injury (MTBI), for which the
symptoms...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...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 ...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 symptoms can occur in post...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...read more »
Read more about Misdiagnosis and Aspartylglycosaminuria
Aspartylglycosaminuria: Research Doctors & Specialists
Research related physicians and medical specialists:
Other doctor, physician and specialist research services:
Hospitals & Clinics: Aspartylglycosaminuria
Research quality ratings and patient safety measures
for medical facilities in specialties related to Aspartylglycosaminuria:
Hospital & Clinic quality ratings »
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:
More Aspartylglycosaminuria animations & videos
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
User Interactive Forums
Read about other experiences, ask a question about Aspartylglycosaminuria, or answer someone else's question, on our message boards:
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: