Living with Lipoyl transferase 1 deficiency
A very rare inherited metabolic condition that begins in newborns or infants with seizures, delayed development, and muscle tone problems.
Understanding Lipoyl transferase 1 deficiency
It varies a lot between people. It typically begins in newborns or infancy with seizures, delayed development, and muscle tone that may be low or high. Lactic acid builds up in the body. Other features can include vomiting, liver problems, swallowing trouble, and speech problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Loss of developmental milestones
- Dystonia (involuntary muscle contractions)
- Stiff, weak muscles in all limbs (spastic tetraparesis)
- Shrinking of the cerebellum
- Enlarged fluid spaces in the brain (ventriculomegaly)
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 LIPT1 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
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation and other patient organizations
- 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
It is caused by changes in the LIPT1 gene. It can be inherited in an autosomal recessive or mitochondrial way.
Also known as: lipoyltransferase 1 deficiency
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lipoyl transferase 1 deficiency.
Explore research for Lipoyl transferase 1 deficiency
Explore actively recruiting Lipoyl transferase 1 deficiency studies with HealthSpark.
Find actively recruiting studies for Lipoyl transferase 1 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 Lipoyl transferase 1 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 Lipoyl transferase 1 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 Lipoyl transferase 1 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.