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D-2-hydroxyglutaric aciduria

MeSH: C535306ORPHA: 79315

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Human disease

Available Treatments (0)

No treatments linked yet

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

Clinical Presentation

Signs and symptoms associated with D-2-hydroxyglutaric aciduria, sourced from HPO and Orphanet clinical annotations.

Global developmental delayD-2-hydroxyglutaric aciduriaD-2-hydroxyglutaric acidemiaElevated CSF D-2-hydroxyglutaric acid concentrationSeizureHypotoniaDelayed speech and language developmentEncephalopathyCardiomyopathyVentriculomegalyStridorDelayed myelinationCerebral visual impairment

Classification & Codes

MeSH Code

C535306

Orphanet Code

ORPHA:79315
D-2-hydroxyglutaric aciduria
MeSHC535306
OrphanetORPHA:79315
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO