Living with Pyruvate dehydrogenase E3 deficiency
A rare genetic metabolic condition, also called dihydrolipoamide dehydrogenase deficiency, affecting the brain and liver.
Understanding Pyruvate dehydrogenase E3 deficiency
Signs usually appear shortly after birth and vary a lot. A common feature is a buildup of lactic acid in tissues. Nervous system problems are common, and the first signs are often low muscle tone and extreme tiredness. Liver problems range from an enlarged liver to liver failure, and in some people liver disease is the main symptom. Symptoms often come in episodes that fever, injury, or other stress can trigger.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Extreme tiredness (lethargy)
- Feeding difficulties and vomiting
- Seizures
- Enlarged liver (hepatomegaly)
- Developmental delay
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 DLD 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 DLD gene. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: congenital infantile lactic acidosis due to lad deficiency; cytochrome-b reductase deficiency; deficiency of diaphorase; deficiency of dihydrolipoamide dehydrogenase; deficiency of lipoamide reductase (nadh); diaphorase deficiency
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 E3 deficiency.
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