Living with Transketolase deficiency
A rare genetic condition with developmental delay, heart defects, short stature, and delayed or absent speech.
Understanding Transketolase deficiency
People have developmental delay, intellectual disability, delayed or absent speech, short stature, and heart defects. Other features can include low muscle tone, hyperactivity, eye problems such as cataracts, and hearing loss. Lab tests show high levels of certain sugar alcohols in blood and urine. It starts in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed or absent speech
- Heart defects, such as holes between heart chambers
- Mild intellectual disability
- Low muscle tone (hypotonia)
- Cataract and eye inflammation (uveitis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in TKT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the TKT gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: short stature-developmental delay-congenital heart defect syndrome; short stature, developmental delay, and congenital heart defects; short stature, developmental delay, congenital heart defect syndrome; tkt (transketolase) deficiency disorder; tkt deficiency; transketolase deficiency disorder
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Transketolase deficiency.
Explore research for Transketolase deficiency
Explore actively recruiting Transketolase deficiency studies with HealthSpark.
Find actively recruiting studies for Transketolase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Transketolase deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Transketolase deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Transketolase deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.