Overview
Lipoic acid biosynthesis defect is a very rare inherited metabolic disorder in which the body cannot properly make lipoic acid (also called alpha-lipoic acid), a small but essential molecule needed for several important enzymes to work correctly. Lipoic acid is a cofactor — a helper molecule — for enzymes involved in energy production inside cells, particularly in the mitochondria (the energy factories of cells). When lipoic acid cannot be made properly, these enzymes fail to function, leading to a buildup of harmful substances and a shortage of cellular energy. This condition typically presents very early in life, often in the newborn period or infancy. Affected babies may show severe neurological problems including seizures, poor muscle tone, developmental delay, and difficulty feeding. Metabolic crises — episodes where the body's chemistry becomes dangerously unbalanced — can occur, especially during illness or fasting. Elevated levels of glycine in the blood and abnormal organic acids in the urine are common laboratory findings, reflecting the dysfunction of the affected enzymes (such as the glycine cleavage system and pyruvate dehydrogenase complex). Treatment options are currently very limited and largely supportive. Some patients may receive supplementation with lipoic acid or related compounds, seizure medications, and dietary management, but there is no established cure. The prognosis is generally serious, and many affected children experience significant disability. Research into better treatments is ongoing but still in early stages.
Also known as:
Key symptoms:
Seizures starting in early infancyPoor muscle tone (floppiness)Severe developmental delayDifficulty feedingFailure to thrive or poor weight gainAbnormal movementsBreathing difficultiesEpisodes of metabolic crisisElevated glycine levels in bloodLactic acidosis (too much acid in the blood)Intellectual disabilityLoss of previously learned skillsLethargy or excessive sleepinessBrain abnormalities seen on MRI
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Lipoic acid biosynthesis defect.
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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
No travel grants are currently matched to Lipoic acid biosynthesis defect.
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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
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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.Which specific gene is affected in my child, and what does that mean for the expected course of the disease?,Are there any supplements or dietary changes that might help my child's condition?,What is the seizure management plan, and when should I seek emergency care?,What should I do if my child becomes sick with a fever or infection to prevent a metabolic crisis?,Are there any clinical trials or research studies my child might be eligible for?,What therapies (physical, occupational, speech) would benefit my child the most?,Should other family members be tested, and what are the chances of this happening in a future pregnancy?
Common questions about Lipoic acid biosynthesis defect
What is Lipoic acid biosynthesis defect?
Lipoic acid biosynthesis defect is a very rare inherited metabolic disorder in which the body cannot properly make lipoic acid (also called alpha-lipoic acid), a small but essential molecule needed for several important enzymes to work correctly. Lipoic acid is a cofactor — a helper molecule — for enzymes involved in energy production inside cells, particularly in the mitochondria (the energy factories of cells). When lipoic acid cannot be made properly, these enzymes fail to function, leading to a buildup of harmful substances and a shortage of cellular energy. This condition typically prese
How is Lipoic acid biosynthesis defect inherited?
Lipoic acid biosynthesis defect follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lipoic acid biosynthesis defect typically begin?
Typical onset of Lipoic acid biosynthesis defect is neonatal. Age of onset can vary across affected individuals.