Overview
Lipoyl transferase 1 deficiency, also known as LIPT1 deficiency, is an extremely rare inherited metabolic disorder. It is caused by mutations in the LIPT1 gene, which provides instructions for making an enzyme called lipoyltransferase 1. This enzyme is essential for attaching a molecule called lipoic acid to several important enzyme complexes inside the mitochondria — the energy-producing parts of our cells. These enzyme complexes, including pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, and the branched-chain alpha-ketoacid dehydrogenase complex, are critical for converting food into energy and for normal brain development. When lipoyltransferase 1 does not work properly, these enzyme complexes cannot function, leading to a severe disruption of energy metabolism. Affected infants typically present very early in life with a combination of lactic acidosis (a dangerous buildup of lactic acid in the blood), seizures, poor feeding, developmental delay, and progressive neurological decline. The condition can also affect the heart, liver, and muscles. There is currently no cure for LIPT1 deficiency. Treatment is mainly supportive and focuses on managing symptoms such as seizures, metabolic crises, and nutritional needs. Some patients may receive supplementation with lipoic acid or cofactors, though the effectiveness of these treatments remains uncertain. The prognosis is generally poor, with many affected children experiencing severe disability. Early recognition and supportive care from a specialized metabolic team are essential to optimize quality of life.
Key symptoms:
Lactic acidosis (buildup of acid in the blood)SeizuresPoor feeding and failure to thriveSevere developmental delayLow muscle tone (floppiness)Breathing difficultiesAbnormal movementsLiver problemsHeart problems (cardiomyopathy)Episodes of metabolic crisisIntellectual disabilityMuscle weaknessLethargy or excessive sleepinessPoor head growth (microcephaly)
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 1 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 1 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 is the specific genetic mutation my child has, and does it tell us anything about how severe the disease might be?,What is the best plan for managing seizures and metabolic crises?,Should we try lipoic acid or other vitamin supplements, and what evidence supports their use?,What emergency plan should we have in place, and what should we bring to the emergency room?,Are there any clinical trials or research studies we could participate in?,What therapies (physical, occupational, speech) would benefit my child?,What are the chances of having another affected child, and what are our options for future pregnancies?
Common questions about Lipoyl transferase 1 deficiency
What is Lipoyl transferase 1 deficiency?
Lipoyl transferase 1 deficiency, also known as LIPT1 deficiency, is an extremely rare inherited metabolic disorder. It is caused by mutations in the LIPT1 gene, which provides instructions for making an enzyme called lipoyltransferase 1. This enzyme is essential for attaching a molecule called lipoic acid to several important enzyme complexes inside the mitochondria — the energy-producing parts of our cells. These enzyme complexes, including pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, and the branched-chain alpha-ketoacid dehydrogenase complex, are critical for converting food i
How is Lipoyl transferase 1 deficiency inherited?
Lipoyl transferase 1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lipoyl transferase 1 deficiency typically begin?
Typical onset of Lipoyl transferase 1 deficiency is neonatal. Age of onset can vary across affected individuals.