2-hydroxyglutaric aciduria | Kisho | Kisho

2-hydroxyglutaric aciduria

Rare Disease

MONDO:0016001

Also known as:

2-hydroxyglutaric acidemia2-hydroxyglutaric aciduria2-HGA

2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized b...

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Feb 7, 2026

Associated Genes

2 genes

SLC25A1 L2HGDH

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

2 genes

SLC25A1 L2HGDH

Gene data from HGNC • Click to view on NCBI Gene

Overview

2-hydroxyglutaric aciduria is a group of neurometabolic disorders that affect the body in different ways. People with this condition can show a wide range of symptoms, as the disorder can appear in a severe form during the newborn period, as a progressive condition, or sometimes without any obvious symptoms. The condition is characterized by elevated levels of 2-hydroxyglutaric acid in the blood, cerebrospinal fluid, and urine. Because the disorder has a wide clinical spectrum, the experiences of people with 2-hydroxyglutaric aciduria can vary significantly. This variability makes it important for healthcare providers to carefully study each case and monitor the findings over time.

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

Information about causes is currently limited for this condition.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Information about research is currently limited for this condition.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

2 genes

SLC25A1 L2HGDH

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Support

External Resources

Orphanet

European rare disease database

Orphanet:19

GARD

Genetic and Rare Diseases Info Center

GARD:10761

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2-hydroxyglutaric aciduria

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?