Living with Pyruvate dehydrogenase E1-alpha deficiency
The most common form of pyruvate dehydrogenase deficiency, with lactic acid buildup and brain and development problems.
Understanding Pyruvate dehydrogenase E1-alpha deficiency
It begins in the newborn or infant period. Features include delayed development, low muscle tone, and nervous system problems. Brain scans may show changes in brain shape.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Severe intellectual disability
- Delays in development
- Slow growth before birth
- Brain changes, such as shrinking or enlarged fluid spaces
- Low Apgar score at birth
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 PDHA1 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
This condition is caused by changes in the PDHA1 gene. GARD lists X-linked and mitochondrial inheritance.
Also known as: ataxia, intermittent, with abnormal pyruvate metabolism; ataxia, intermittent, with pyruvate dehydrogenase deficiency; ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency; pdhad; pyruvate dehydrogenase complex e1 component subunit alpha deficiency; pyruvate dehydrogenase e1-alpha deficiency, x-linked dominant
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 Pyruvate dehydrogenase E1-alpha deficiency.
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