2-hydroxyglutaric aciduria

ORPHA: 19

Contents

1. Overview
2. Available Treatments
3. Classification & Codes

Overview

amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:19

2-hydroxyglutaric aciduria

Orphanet	`ORPHA:19`
Treatments	0 drug(s)
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO