Overview
Lipoic acid synthetase deficiency (also called LIAS deficiency) is an extremely rare inherited metabolic disorder caused by problems in the gene that makes lipoic acid synthetase, an enzyme the body needs to produce lipoic acid. Lipoic acid is a critical helper molecule (cofactor) that several important enzymes in the body depend on to break down sugars and amino acids for energy. When lipoic acid cannot be made properly, these energy-producing pathways in the cells fail, leading to a buildup of harmful substances and a shortage of cellular energy. Babies with this condition typically become sick very early in life, often in the newborn period. Common problems include a dangerous buildup of lactic acid in the blood (lactic acidosis), seizures that are difficult to control, poor muscle tone, feeding difficulties, and failure to grow and develop normally. The brain is particularly affected, and many children show abnormalities on brain imaging. Other organs such as the heart and liver may also be involved. There is currently no cure for lipoic acid synthetase deficiency. Treatment is mainly supportive and focuses on managing seizures, correcting metabolic imbalances, providing nutritional support, and addressing complications as they arise. Some patients have been tried on supplemental lipoic acid or other cofactors, but results have been limited. Because this disease affects fundamental energy production in cells, the outlook is unfortunately serious, and many affected children experience significant developmental challenges and shortened lifespan.
Key symptoms:
Severe lactic acidosis (dangerous acid buildup in the blood)Seizures that are hard to controlPoor muscle tone (floppiness)Feeding difficultiesFailure to thrive and poor weight gainDevelopmental delay or intellectual disabilityAbnormal brain development seen on MRIEpisodes of metabolic crisisBreathing difficultiesLiver problemsHeart problems (cardiomyopathy)Low energy and excessive sleepinessMovement abnormalitiesElevated glycine levels in the blood
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 synthetase deficiency.
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Specialists
View all specialists →No specialists are currently listed for Lipoic acid synthetase deficiency.
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 synthetase deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.What specific genetic variants were found in my child's LIAS gene, and what do they mean for the severity of the disease?,Are there any experimental treatments or clinical trials that might be appropriate for my child?,What is the emergency plan if my child has a metabolic crisis, and what should I tell emergency room doctors?,Would supplementation with lipoic acid or other vitamins be worth trying in my child's case?,How often should my child have brain imaging, heart checks, and metabolic blood tests?,What developmental and therapy services should we set up, and how can we access them?,Should other family members be tested as carriers, and what are the options for future pregnancies?
Common questions about Lipoic acid synthetase deficiency
What is Lipoic acid synthetase deficiency?
Lipoic acid synthetase deficiency (also called LIAS deficiency) is an extremely rare inherited metabolic disorder caused by problems in the gene that makes lipoic acid synthetase, an enzyme the body needs to produce lipoic acid. Lipoic acid is a critical helper molecule (cofactor) that several important enzymes in the body depend on to break down sugars and amino acids for energy. When lipoic acid cannot be made properly, these energy-producing pathways in the cells fail, leading to a buildup of harmful substances and a shortage of cellular energy. Babies with this condition typically become
How is Lipoic acid synthetase deficiency inherited?
Lipoic acid synthetase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lipoic acid synthetase deficiency typically begin?
Typical onset of Lipoic acid synthetase deficiency is neonatal. Age of onset can vary across affected individuals.