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Diseases » 2-Hydroxyglutaricaciduria » Summary

What is 2-Hydroxyglutaricaciduria?

Contents

What is 2-Hydroxyglutaricaciduria?

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.

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

2-Hydroxyglutaricaciduria: Introduction

What are the symptoms of 2-Hydroxyglutaricaciduria?

Symptoms of 2-Hydroxyglutaricaciduria: see symptoms of 2-Hydroxyglutaricaciduria

How is it treated?

Treatments for 2-Hydroxyglutaricaciduria: see treatments for 2-Hydroxyglutaricaciduria

Name and Aliases of 2-Hydroxyglutaricaciduria

Main name of condition: 2-Hydroxyglutaricaciduria

Other names or spellings for 2-Hydroxyglutaricaciduria:

D-2-hydroxyglutaricaciduria, L-2-hydroxyglutaricaciduria, D2HA, L2HA, Combined D-2- and L-2-hydroxyglutaric aciduria (subtype), L-2-hydroxyglutaric aciduria (subtype), D-2-hydroxyglutaric aciduria (subtype)

Combined D-2- and L-2-hydroxyglutaric aciduria (subtype), D-2-hydroxyglutaric aciduria (subtype), L-2-hydroxyglutaric aciduria (subtype)
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)