2-Hydroxyglutaricaciduria: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
More detailed information about the symptoms,
causes, and treatments of 2-Hydroxyglutaricaciduria is available below.
Symptoms of 2-Hydroxyglutaricaciduria
- Increased plasma level of L-2-hydroxyglutaricaciduria
- Increased urinary level of L-2-hydroxyglutaricaciduria
- Moderate psychomotor retardation
- Progressive ataxia
- Extrapyramidal signs
- more symptoms...»
See full list of 39
symptoms of 2-Hydroxyglutaricaciduria
Home Diagnostic Testing
Home medical testing related to 2-Hydroxyglutaricaciduria:
- Bladder & Urinary Health: Home Testing:
Wrongly Diagnosed with 2-Hydroxyglutaricaciduria?
Causes of 2-Hydroxyglutaricaciduria
Read more about causes of 2-Hydroxyglutaricaciduria.
Disease Topics Related To 2-Hydroxyglutaricaciduria
Research the causes of these diseases that are similar to, or related to, 2-Hydroxyglutaricaciduria:
Less Common Symptoms of 2-Hydroxyglutaricaciduria
Read more about symptoms of 2-Hydroxyglutaricaciduria
2-Hydroxyglutaricaciduria: Undiagnosed Conditions
Commonly undiagnosed diseases in related medical categories:
Misdiagnosis and 2-Hydroxyglutaricaciduria
Interstitial cystitis an under-diagnosed bladder condition: The medical
condition of interstitial cystitic is a bladder condition that can be
misdiagnosed as various conditions...read more »
Read more about Misdiagnosis and 2-Hydroxyglutaricaciduria
2-Hydroxyglutaricaciduria: Research Doctors & Specialists
Research related physicians and medical specialists:
- Urinary & Bladder Specialists (Urology):
- Kidney Health Specialists (Nephrology):
- more specialists...»
Other doctor, physician and specialist research services:
Statistics for 2-Hydroxyglutaricaciduria
2-Hydroxyglutaricaciduria: Broader Related Topics
Types of 2-Hydroxyglutaricaciduria
User Interactive Forums
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Definitions of 2-Hydroxyglutaricaciduria:
2-Hydroxyglutaricaciduria is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that 2-Hydroxyglutaricaciduria, or a subtype of 2-Hydroxyglutaricaciduria,
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 2-Hydroxyglutaricaciduria as a "rare disease".
Source - Orphanet
Contents for 2-Hydroxyglutaricaciduria: