Living with Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
A rare genetic condition that affects how the body uses certain nutrients and causes sudden episodes of brain problems, often with infections.
Understanding Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
It causes sudden episodes of brain dysfunction, which can be triggered by viral infections. During these episodes the body makes too much lactic acid and alpha-ketoglutaric acid. Developmental skills can slip back, and this worsens with each episode. GARD lists onset as in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking (gait problems)
- Involuntary muscle contractions (dystonia)
- Episodes of poor balance and coordination (ataxia)
- Delays in development
- Muscle stiffness (spasticity)
- Seizures and weak trunk muscles, in some
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 genetic specialists.
- 3Consider genetic testing
Changes in TPK1 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
- Genetic specialists (geneticists)
- 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
GARD says changes in the TPK1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency; thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
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 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency.
Explore research for Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Explore actively recruiting Childhood encephalopathy due to thiamine pyrophosphokinase deficiency studies with HealthSpark.
Find actively recruiting studies for Childhood encephalopathy due to thiamine pyrophosphokinase 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 Childhood encephalopathy due to thiamine pyrophosphokinase 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 Childhood encephalopathy due to thiamine pyrophosphokinase 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 Childhood encephalopathy due to thiamine pyrophosphokinase 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.