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SLC25A15 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC25A15 gene

The SLC25A15 gene encodes a mitochondrial protein essential for the urea cycle, which prevents toxic ammonia from accumulating in the body.

Normal Function

The SLC25A15 gene provides instructions for making a protein called mitochondrial ornithine transporter 1. This protein is critical to the urea cycle, a sequence of biochemical reactions in liver cells that breaks down excess nitrogen from protein metabolism into urea for excretion in urine.

The transporter moves a molecule called ornithine across the inner membrane of the mitochondria into the mitochondrial matrix, where it is required for the urea cycle to proceed. This process prevents nitrogen from accumulating as ammonia, which is toxic to the nervous system.

Health Conditions Related to Genetic Changes

Ornithine translocase deficiency

Mutations in the SLC25A15 gene cause ornithine translocase deficiency, leading to abnormally high levels of ammonia in the blood. This condition can cause severe symptoms in infancy, including lethargy, feeding difficulties, seizures, and issues with breathing or temperature control. Adults may experience vomiting, movement disorders, and liver or neurological problems.

  • Common Mutations: The most frequent mutation, Phe188del, is common in French-Canadian populations. Another, Arg179Ter, is frequently found in Japanese and Middle Eastern populations.
  • Pathology: Impaired ornithine transport halts the urea cycle, causing toxic ammonia to build up in the bloodstream, which damages the brain and causes the condition's characteristic symptoms.

Genomic Location

The SLC25A15 gene is found on chromosome 13.

Frequently Asked Questions

In infants, critical warning signs include sudden lethargy, poor feeding, vomiting, seizures, difficulty breathing, and problems regulating body temperature. These can rapidly progress to coma. In adults, symptoms can include recurrent vomiting, confusion, ataxia (movement disorders), and liver or neurological problems, all indicative of dangerously high ammonia levels.
Management focuses on preventing hyperammonemia. This involves a strict low-protein diet to reduce nitrogen intake, medications to remove excess ammonia (such as ammonia scavengers like sodium phenylbutyrate), and sometimes citrulline or arginine supplementation to support the urea cycle. During acute crises, intravenous ammonia-scavenging medications and hemodialysis may be necessary.
lifelong, carefully controlled low-protein diet is essential to limit the intake of nitrogen, which can lead to ammonia buildup. This often requires specialized medical foods and close monitoring by a metabolic dietitian. Caloric intake must be sufficient to prevent the body from breaking down its own proteins, which would also release nitrogen.
Yes, OTD is an inherited condition, passed down in an autosomal recessive pattern, meaning both parents must contribute a mutated SLC25A15 gene. Specific mutations are indeed more common in certain populations; for example, the Phe188del mutation is frequently found in individuals of French-Canadian descent, while the Arg179Ter mutation is often seen in Japanese and Middle Eastern populations.
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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