Living with Inherited lipoic acid biosynthesis defect
A group of rare inherited conditions in which the body can't make lipoic acid, a helper substance for energy reactions.
Understanding Inherited lipoic acid biosynthesis defect
Lipoate is a helper molecule that is essential for important reactions in the body. Several genes are involved (LIPT1, LIAS, DLD). In one person with LIPT1 deficiency, the picture was milder and like Leigh syndrome. With DLD gene deficiency, features vary widely. It begins in the newborn period or childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. It says features vary depending on which enzyme is affected.
- Leigh-like syndrome (brain and nervous system changes) in some people
- Features that differ depending on the gene involved
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
Different enzyme deficiencies cause this group of conditions, involving the LIPT1, LIAS, and DLD genes. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: inborn error of lipoate biosynthetic process; inborn lipoate biosynthetic process disorder; lipoate biosynthesis defect; lipoic acid biosynthesis defect; rare inborn error of lipoate biosynthetic process
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 Inherited lipoic acid biosynthesis defect.
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