Living with 2-hydroxyglutaric aciduria
A group of genetic conditions that affect the brain and cause delayed development, seizures, and low muscle tone.
Understanding 2-hydroxyglutaric aciduria
There are three main types: D-2-HGA, L-2-HGA, and combined D,L-2-HGA. D-2-HGA mainly brings delayed development, seizures, and low muscle tone (hypotonia). L-2-HGA affects balance and coordination (ataxia) and can bring speech difficulties and a large head. The combined type shows up early in infancy with severe seizures, low muscle tone, and breathing and feeding problems. GARD lists onset as childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Delayed development
- Seizures
- Low muscle tone (hypotonia)
- Balance and coordination problems (ataxia)
- Speech difficulties
- Weakened, enlarged heart (cardiomyopathy) in D-2-HGA type II
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
GARD says changes in genes (also called variants) cause this condition. The subtypes differ in genetic cause and are listed as autosomal dominant or autosomal recessive.
Also known as: 2-hydroxyglutaric acidemia; d2l2ad
Patient organizations
- Organic Acidemia Association2-hydroxyglutaric aciduria · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with 2-hydroxyglutaric aciduria.
Explore research for 2-hydroxyglutaric aciduria
Explore actively recruiting 2-hydroxyglutaric aciduria studies with HealthSpark.
Find actively recruiting studies for 2-hydroxyglutaric aciduria with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting 2-hydroxyglutaric aciduria studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for 2-hydroxyglutaric aciduria
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your 2-hydroxyglutaric aciduria experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.