Living with Triosephosphate isomerase deficiency
A genetic condition with early anemia, movement problems, and muscle weakness that can affect breathing and the heart.
Understanding Triosephosphate isomerase deficiency
The anemia starts in infancy because red blood cells break down too early. This can cause tiredness, pale skin, shortness of breath, and yellowing of the skin and eyes (jaundice). Movement problems usually show by age 2 and come from damage to motor nerve cells. People are more prone to infections and may have seizures. Weakness can also affect the heart and the diaphragm, which can cause breathing problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia from early breakdown of red blood cells
- Low muscle tone (hypotonia)
- Muscle weakness and wasting
- Movement problems, such as dystonia and tremor
- Weak diaphragm (diaphragmatic paralysis)
- More infections than usual
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 blood and bone marrow specialists, brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in TPI1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy Foundation
- 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 TPI1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of phosphotriose isomerase; deficiency of triosephosphate mutase; hemolytic anaemia due to triosephosphate isomerase deficiency; hemolytic anemia due to triosephosphate isomerase deficiency; tpi - thiose phosphate isomerase deficiency; tpid
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Triosephosphate isomerase deficiency.
Explore research for Triosephosphate isomerase deficiency
Explore actively recruiting Triosephosphate isomerase deficiency studies with HealthSpark.
Find actively recruiting studies for Triosephosphate isomerase 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 Triosephosphate isomerase 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 Triosephosphate isomerase 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 Triosephosphate isomerase 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.