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SLC19A3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC19A3 gene

The SLC19A3 gene provides instructions for making a thiamine transporter protein that is essential for moving vitamin B1 into cells and supporting nervous system function.

Normal Function

The SLC19A3 gene provides instructions for making a protein called a thiamine transporter, which moves vitamin B1 (thiamine) into cells. Thiamine is involved in many cellular processes and is necessary for the proper functioning of the nervous system. Molecules made from thiamine are important in the breakdown of sugars and protein building blocks (amino acids), as well as the production of neurotransmitters.

Health Conditions Related to Genetic Changes

Biotin-thiamine-responsive basal ganglia disease

At least seven mutations in the SLC19A3 gene have been identified in people with biotin-thiamine-responsive basal ganglia disease, a disorder that involves recurrent episodes of brain dysfunction (encephalopathy) and progressive neurological problems. These mutations likely result in a protein with an impaired ability to transport thiamine into cells, leading to neurological dysfunction. Medical imaging often reveals abnormalities in the basal ganglia, a group of structures that help control movement.

Leigh syndrome

MedlinePlus Genetics provides information about Leigh syndrome.

Other disorders

SLC19A3 gene mutations have been identified in individuals with other neurological disorders that overlap with biotin-thiamine-responsive basal ganglia disease, including:

  • Early infantile lethal encephalopathy.
  • A disorder beginning in early infancy that causes seizures and brain deterioration (atrophy).
  • Cases with signs and symptoms similar to Leigh syndrome and Wernicke encephalopathy.

It is currently unclear why mutations in this gene cause varying signs and symptoms in different individuals.

Other Names for This Gene

  • BBGD
  • S19A3_HUMAN
  • solute carrier family 19 (thiamine transporter), member 3
  • solute carrier family 19, member 3
  • thiamine transporter 2
  • THMD2
  • thTr-2
  • THTR2

Frequently Asked Questions

It is a rare inherited disorder caused by mutations in the SLC19A3 gene, which impairs the thiamine transporter. The result is recurrent episodes of brain dysfunction, often affecting the basal ganglia, leading to movement problems, seizures, and cognitive decline. How is the disease diagnosed and what tests are needed?::A combination of clinical evaluation, brain MRI showing basal ganglia lesions, and genetic testing that identifies pathogenic SLC19A3 variants confirms the diagnosis. Blood thiamine levels may be normal, so genetic testing is essential. What is the standard treatment for patients with SLC19A3 mutations?::High‑dose oral biotin (up to 10 mg/day) and thiamine (up to 100 mg/day) are the cornerstone of therapy. Early initiation during acute episodes can prevent progression. Some patients also benefit from a low‑phosphorus diet and avoiding alcohol. Can patients with SLC19A3 mutations lead a normal life, and what monitoring is required?::With prompt treatment, many patients achieve stable neurological function and can lead active lives. Regular follow‑up includes neurological exams, MRI scans every 1–2 years to monitor basal ganglia changes, and periodic blood tests for vitamin levels. Family members should also be offered genetic counseling and testing.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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