Diseases » 2-Hydroxyglutaricaciduria » Introduction

2-Hydroxyglutaricaciduria

2-Hydroxyglutaricaciduria: Introduction

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:
  • Home Bladder Testing
  • Home Urinary Tract Infection Tests
  • Home Cystitis Tests
• more...»

Wrongly Diagnosed with 2-Hydroxyglutaricaciduria?

• Misdiagnosis of 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:

• Autosomal recessive neurometabolic disorder
• Organic aciduria
• Cardiomyopathy
• Macrocephaly
• Mental retardation
• Hypotonia
• more related diseases...»

Less Common Symptoms of 2-Hydroxyglutaricaciduria

• Episodic vomiting
• Cardiomyopathy
• Inspiratory stridor
• Apnea
• more symptoms...»

Read more about symptoms of 2-Hydroxyglutaricaciduria

2-Hydroxyglutaricaciduria: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

• Urinary & Bladder Disorders -- serious medical disorders that may be undiagnosed:
  • Incontinence -- Undiagnosed
  • Overactive Bladder Syndrome -- Undiagnosed
  • Interstitial Cystitis -- Undiagnosed
  • Prostate Disorders -- Undiagnosed
  • more ...»
• more undiagnosed conditions...»

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 such as overactive...read more »

Read more about Misdiagnosis and 2-Hydroxyglutaricaciduria

2-Hydroxyglutaricaciduria: Research Doctors & Specialists

Research related physicians and medical specialists:

• Urinary & Bladder Specialists (Urology):
  • Urology (Urinary Specialists)
  • Urological Surgery (Urinary Surgeons)
  • Kidney Doctors (Nephrologists) -- State Directory
• Kidney Health Specialists (Nephrology):
  • Nephrology (Kidney Health)
  • Pediatric Nephrology (Child Kidney Health)
  • Urology (Urinary/Bladder)
  • Kidney Doctors (Nephrologists) -- Local Directory
• more specialists...»

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Statistics for 2-Hydroxyglutaricaciduria

• Medical statistics for 2-Hydroxyglutaricaciduria
• Prevalence and incidence statistics for 2-Hydroxyglutaricaciduria
• Death and Mortality statistics for 2-Hydroxyglutaricaciduria
• Society statistics for 2-Hydroxyglutaricaciduria

2-Hydroxyglutaricaciduria: Broader Related Topics

• Urinary system conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• Congenital conditions
• more types...»

Types of 2-Hydroxyglutaricaciduria

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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

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