Living with D-2-hydroxyglutaric aciduria
An inherited metabolic condition that affects the brain and causes developmental delay, seizures, and low muscle tone.
Understanding D-2-hydroxyglutaric aciduria
Signs include developmental delay, seizures, low muscle tone (hypotonia), and differences in the cerebrum, the largest part of the brain. The cerebrum helps control movement, speech, vision, thinking, emotion, and memory. GARD lists onset from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these as the most common:
- Delayed development overall
- Low muscle tone (hypotonia)
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Organic Acidemia Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the D2HGDH gene cause this condition, which is inherited in an autosomal recessive way. A child inherits a changed copy of the gene from each parent.
Also known as: d-2-hga; d-2-hydroxyglutaric acidemia; d-2-hydroxyglutaric aciduria type 1; d-2(oh) glutaric aciduria
Patient organizations
- Organic Acidemia AssociationD-2-hydroxyglutaric aciduria · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with D-2-hydroxyglutaric aciduria.
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