Overview
Transketolase deficiency is a very rare inherited metabolic disorder caused by reduced activity of an enzyme called transketolase. This enzyme plays an important role in the pentose phosphate pathway, which is a process your cells use to produce energy and build important molecules, including those needed for DNA repair and protecting cells from damage. When transketolase does not work properly, this pathway is disrupted, and cells — especially in the brain and nervous system — may not function as they should. The condition can affect multiple body systems, but the nervous system tends to be most impacted. Reported symptoms have included intellectual disability, developmental delays, movement problems, and abnormalities in how the brain develops. Because so few cases have been described in the medical literature, the full range of symptoms is still being understood by researchers and doctors. There is currently no specific approved treatment for transketolase deficiency. Management focuses on supporting symptoms and development through therapies such as physical therapy, occupational therapy, and educational support. Thiamine (vitamin B1) supplementation has been considered in some cases because transketolase depends on thiamine to work, though evidence for this approach remains limited. Ongoing research and genetic testing are helping doctors better understand and diagnose this condition.
Key symptoms:
Intellectual disability or learning difficultiesDevelopmental delays (slower to reach milestones like sitting, walking, or talking)Movement problems or poor coordinationAbnormal brain development (seen on brain scans)Low muscle tone (floppy muscles)SeizuresSpeech and language delaysBehavioral difficultiesPoor feeding in infancy
Clinical phenotype terms (27)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Transketolase deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Transketolase deficiency at this time.
New trials open frequently. Follow this disease to get notified.
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 Transketolase deficiency.
Community
No community posts yet. Be the first to share your experience with Transketolase deficiency.
Start the conversation →Latest news about Transketolase deficiency
No recent news articles for Transketolase deficiency.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,Is thiamine (vitamin B1) supplementation appropriate for my child, and how would we know if it is helping?,What therapies — such as speech, physical, or occupational therapy — should we start right away?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek emergency care?,How often should my child be seen by specialists, and which specialists should be on the care team?,What support services or educational programs are available for children with this condition?
Common questions about Transketolase deficiency
What is Transketolase deficiency?
Transketolase deficiency is a very rare inherited metabolic disorder caused by reduced activity of an enzyme called transketolase. This enzyme plays an important role in the pentose phosphate pathway, which is a process your cells use to produce energy and build important molecules, including those needed for DNA repair and protecting cells from damage. When transketolase does not work properly, this pathway is disrupted, and cells — especially in the brain and nervous system — may not function as they should. The condition can affect multiple body systems, but the nervous system tends to be
How is Transketolase deficiency inherited?
Transketolase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Transketolase deficiency typically begin?
Typical onset of Transketolase deficiency is infantile. Age of onset can vary across affected individuals.
Which specialists treat Transketolase deficiency?
1 specialists and care centers treating Transketolase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.