Living with Oxoglutaricaciduria
A rare inherited metabolism condition starting in newborns, with developmental delay, low muscle tone, and liver and blood chemistry changes.
Understanding Oxoglutaricaciduria
Metabolism is how the body turns food into energy. In this condition, babies have developmental delay, low muscle tone (hypotonia), and an enlarged liver. Tests show high lactic acid in the blood and high alpha-ketoglutaric acid in the urine. Some people also have low blood sugar and seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in development (global developmental delay)
- Problems with balance and coordination (ataxia)
- Stiff muscles (hypertonia)
- Loss of muscle bulk (muscle atrophy)
- Short stature
- Extra fluid in the brain (hydrocephalus)
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.
- 3Consider genetic testing
Changes in OGDH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation, United Mitochondrial Disease Foundation and MitoAction 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, United Mitochondrial Disease Foundation, MitoAction
- 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 Epilepsy Foundation 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 OGDH gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD also lists it as mitochondrial.
Also known as: alpha-ketoglutarate dehydrogenase deficiency; deficiency of alpha-ketoglutarate dehydrogenase; oxoglutarate dehydrogenase deficiency; oxoglutaric aciduria
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Oxoglutaricaciduria.
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