Overview
Pyruvate dehydrogenase E3 deficiency, also known as dihydrolipoamide dehydrogenase (DLD) deficiency or lipoamide dehydrogenase deficiency, is a rare inherited metabolic disorder. It is sometimes referred to as maple syrup urine disease type III because it shares some features with that condition. The disease affects the E3 component (dihydrolipoamide dehydrogenase) of several important enzyme complexes in the body, including the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex. These enzymes are essential for converting food into energy inside cells, particularly in the mitochondria — the energy-producing parts of cells. Because multiple enzyme complexes are affected, the disease causes a buildup of lactic acid, branched-chain amino acids, and other harmful substances in the blood. Symptoms typically appear in infancy or early childhood and can include poor feeding, vomiting, low muscle tone, developmental delays, seizures, and episodes of metabolic crisis often triggered by illness or fasting. The liver can also be affected, sometimes leading to liver failure. There is currently no cure for this condition. Treatment focuses on managing symptoms, preventing metabolic crises, and supporting nutrition. A carefully controlled diet, supplements such as thiamine (vitamin B1) and riboflavin (vitamin B2), and avoidance of fasting are common strategies. Despite treatment, the disease can be severe and life-threatening, especially in its most serious forms.
Also known as:
Key symptoms:
Low muscle tone (floppiness)Poor feeding in infancyVomitingFailure to gain weight and grow normallyDevelopmental delaysIntellectual disabilitySeizuresEpisodes of severe metabolic crisisHigh levels of lactic acid in the bloodLiver problems or liver failureFatigue and low energyRapid breathingMaple syrup-like odor in urine during crisesMovement problemsComa during severe episodes
Clinical phenotype terms (28)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Pyruvate dehydrogenase E3 deficiency.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's enzyme deficiency, and what does that mean for their outlook?,What specific dietary plan should we follow, and can we see a metabolic dietitian?,What is the emergency protocol if my child becomes sick or stops eating?,Should other family members or future pregnancies be tested for this condition?,What developmental therapies should we start, and how often?,Are there any clinical trials or new treatments being studied for this condition?,How often should blood tests and follow-up visits be scheduled?
Common questions about Pyruvate dehydrogenase E3 deficiency
What is Pyruvate dehydrogenase E3 deficiency?
Pyruvate dehydrogenase E3 deficiency, also known as dihydrolipoamide dehydrogenase (DLD) deficiency or lipoamide dehydrogenase deficiency, is a rare inherited metabolic disorder. It is sometimes referred to as maple syrup urine disease type III because it shares some features with that condition. The disease affects the E3 component (dihydrolipoamide dehydrogenase) of several important enzyme complexes in the body, including the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex. These enzymes are essentia
How is Pyruvate dehydrogenase E3 deficiency inherited?
Pyruvate dehydrogenase E3 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.