The SLC13A5 gene helps move citrate, a small molecule your body uses for energy and cell building, into cells, especially in the brain and liver. If this gene does not work well, the body may not handle citrate normally, and some children develop early seizures, delays in development, movement differences, and tooth enamel that forms poorly. A pathogenic variant in both copies of the SLC13A5 gene can confirm a genetic condition called SLC13A5-related developmental and epileptic encephalopathy. This is a rare gene and is not widely known outside genetics and neurology care.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or regulate processes in the body. Some genes hold the information needed to make proteins, the working parts of cells. Others mainly help determine when certain processes run, where they occur, and how strongly they run. Together, genes affect how the body develops and functions, and they can also influence how you respond to food, stress, or medications. To explore this topic in more detail, you can learn more in LearnHub.
Overview
SLC13A5Gene function
What if the gene works
The SLC13A5 gene helps move citrate, a molecule used for energy and cell building, into cells. This is especially important in the liver and brain, where steady citrate levels support normal metabolism and nerve function.
Risk
What if the gene does not work
Pathogenic variants in the SLC13A5 gene most often cause early-onset seizures and developmental delays affecting movement, speech, and learning. Some people have tooth enamel changes, and milder or severe variants can affect when symptoms begin and how marked they are.
Treatment
What does that mean for your treatment
At present, no treatment or drug choice is specifically guided by pathogenic variants in the SLC13A5 gene in routine clinical guidelines. Care is supportive and uses standard seizure medicines and developmental therapies based on symptoms rather than the gene itself. The SLC13A5 gene is an active research target, with gene replacement approaches and other disease-specific therapies under investigation.
Conditions associated with SLC13A5
Gene function
What if the gene works
Your cells need citrate, a natural substance that helps with energy and basic cell building. The SLC13A5 gene provides instructions for a transporter on the cell surface that brings citrate in from the bloodstream. This supports normal metabolism in tissues that use citrate regularly, including the liver and brain.
This transporter brings citrate from the bloodstream into cells, together with sodium. That gives many cells, especially in the liver and brain, direct access to citrate for routine use.
Once inside the cell, citrate can feed energy pathways and help supply fuel for everyday work. Understanding how the SLC13A5 gene helps cells use citrate makes its role in normal metabolism easier to picture.
Citrate also serves as starting material for making fats and cholesterol that cells need. These products support cell membranes, energy storage, and other day to day maintenance.
What is a variant?
A genetic variant is a minor difference in the DNA sequence of a gene. These differences are common and help shape normal human diversity, including variation in appearance, metabolism, and the way the body responds to environmental influences. Many do not have any noticeable effect and are part of natural genetic variation. Sometimes, though, a variant changes how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the SLC13A5 gene can change the transporter’s shape, lower its stability, or keep it from reaching the cell surface, which reduces or removes citrate transport. This explains how variants in the SLC13A5 gene affect citrate transport: milder variants may leave some activity, while more disruptive variants often cause little to none and can be linked to earlier or more marked symptoms.
How variants are linked to conditions
Pathogenic variants in both copies of the SLC13A5 gene cause developmental and epileptic encephalopathy 25, often called SLC13A5 deficiency disorder. This rare condition usually begins in the first days of life with seizures and is also linked to developmental delays and weak tooth enamel. When genetic testing finds disease-causing variants on both copies of the SLC13A5 gene, it can confirm the diagnosis.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are widely seen in the general population. Most do not directly affect health and instead reflect normal human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors also play a role. In some situations, though, a single well understood variant in a particular gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For SLC13A5, risk is mainly shaped by family history and whether both biological parents carry a changed copy of the gene. The chance is higher in families with an affected child already, or when parents are blood relatives, because they are more likely to share the same gene change. Lifestyle habits do not meaningfully change this inherited risk.
Inheritance of SLC13A5 variants
SLC13A5-related disease is inherited in an autosomal recessive pattern. In practical terms, how SLC13A5 variants are inherited usually means a child must receive one altered copy of the SLC13A5 gene from each parent to have the condition. Parents who each carry one variant are often unaffected themselves. With each pregnancy, there is a 25% chance the child will have the condition, a 50% chance the child will be a carrier, and a 25% chance the child will inherit neither variant.
What does my SLC13A5 result mean for my family?
For families with an SLC13A5-related condition, close relatives may also carry the gene change, even if they do not have symptoms. Brothers and sisters may be affected or may be healthy carriers, and other relatives may also carry the same change. Family members who are planning children sometimes want to learn whether they carry it too.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the SLC13A5 gene, a clinician can order SLC13A5 genetic testing using a blood sample, cheek swab, or saliva sample. A lab reads the gene's DNA code and compares it with the sequence to look for variants. Results may identify a disease-causing variant, a benign change, or a variant of uncertain significance.
When should I consider getting a genetic test?
Consider testing for changes in the SLC13A5 gene if a baby or child has seizures starting in the first days or months of life, along with developmental delay, low muscle tone, movement problems, or unusual tooth enamel. Testing can also help when a close family member has a condition linked to SLC13A5 or a known SLC13A5 variant.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it reveals depends on the condition and the type of variant involved. Many factors, including lifestyle, environment, age, and medical history, influence how the body functions over time. For some conditions, especially those shaped by many genes, genetic information offers context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas such as medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body absorbs, breaks down, transports, or responds to a drug. This is common and can help explain why the same treatment works well for one person, works less well for another, or causes more side effects in someone who is more sensitive to it.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences shape the way people respond to medications. It studies the relationship between genes and drugs to help explain why the same treatment can work differently from one person to another. For many medicines, genes influence how strongly a drug works and how the body handles it. This information can support treatment decisions that are both better informed and more individualized. To explore this subject in greater detail, you can learn more in the LearnHub.
Drugs influenced by the SLC13A5 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medicine choice or predicting drug side effects. If you have questions about symptoms, seizures, or how a medicine is affecting you, speak with your doctor or pharmacist.
History
Researchers first studied the SLC13A5 gene as part of a family of genes involved in moving small molecules across cell membranes. In recent decades, awareness of this gene’s role has grown as laboratory work linked it to citrate transport in the liver, brain, and other tissues. A major turning point came in 2014, when pathogenic variants in the SLC13A5 gene were identified in children with early-onset epilepsy and developmental differences. From these first observations, research expanded steadily, and the condition became known as SLC13A5-related developmental and epileptic encephalopathy, also called citrate transporter deficiency. Since then, patient registries, natural history studies, and advocacy groups have helped bring wider attention to this rare genetic condition.