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

Less Common Symptoms of 2-Hydroxyglutaricaciduria

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

Read more about symptoms 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