Overview
Lipoyl transferase 2 deficiency (also known as LIPT2 deficiency) is a very rare inherited metabolic disorder caused by changes in the LIPT2 gene. This gene provides instructions for making an enzyme called lipoyl transferase 2, which plays an important role in a process called lipoic acid metabolism. Lipoic acid is a small molecule that helps several enzyme complexes inside cells — especially in the mitochondria, the energy-producing parts of cells — work properly. When LIPT2 does not function correctly, these enzyme complexes cannot do their jobs, and the body struggles to produce energy from food. Because energy production is disrupted, the brain and nervous system are especially affected. Most children with this condition show signs very early in life, including severe developmental problems, seizures, and a buildup of certain acids in the blood (called lactic acidosis). Muscle tone is often very low, and feeding can be difficult. Brain imaging often shows abnormal changes in the white matter of the brain. There is currently no cure for LIPT2 deficiency. Treatment focuses on managing symptoms, particularly controlling seizures and supporting nutrition. Some doctors have tried supplements like lipoic acid or other cofactors, but evidence for their effectiveness is very limited. The condition is extremely rare, with only a small number of cases reported in the medical literature worldwide.
Key symptoms:
Severe developmental delay or regressionSeizures that are hard to controlVery low muscle tone (floppy baby)Lactic acidosis (buildup of lactic acid in the blood)Feeding difficultiesAbnormal brain white matter on MRILittle or no purposeful movementBreathing problemsPoor weight gain and growthReduced or absent response to surroundings
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 Lipoyl transferase 2 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
No travel grants are currently matched to Lipoyl transferase 2 deficiency.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.What specific changes were found in the LIPT2 gene, and what do they mean for my child's health?,Should other family members be tested, and what are the chances of this happening in a future pregnancy?,Are there any clinical trials or research studies we could participate in?,What supplements or dietary approaches have been tried in similar conditions, and would any be appropriate for my child?,What signs should prompt me to go to the emergency room, and do we need a specific emergency care letter?,How often should we have follow-up appointments, and which specialists should be involved in my child's care?,What palliative care and support services are available to help our family?
Common questions about Lipoyl transferase 2 deficiency
What is Lipoyl transferase 2 deficiency?
Lipoyl transferase 2 deficiency (also known as LIPT2 deficiency) is a very rare inherited metabolic disorder caused by changes in the LIPT2 gene. This gene provides instructions for making an enzyme called lipoyl transferase 2, which plays an important role in a process called lipoic acid metabolism. Lipoic acid is a small molecule that helps several enzyme complexes inside cells — especially in the mitochondria, the energy-producing parts of cells — work properly. When LIPT2 does not function correctly, these enzyme complexes cannot do their jobs, and the body struggles to produce energy from
How is Lipoyl transferase 2 deficiency inherited?
Lipoyl transferase 2 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lipoyl transferase 2 deficiency typically begin?
Typical onset of Lipoyl transferase 2 deficiency is neonatal. Age of onset can vary across affected individuals.