The DHPS gene helps cells switch on a protein that supports growth, brain development, and many basic cell tasks. This gene plays an important role in keeping these processes running smoothly from early life onward. If both copies of the gene do not work properly, a child may have developmental delay, low muscle tone, seizures, feeding problems, or differences in movement. DHPS related conditions are rare and are usually identified through genetic testing.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or regulating processes in the body. Some genes provide the information needed to make proteins, the parts of cells that do much of the work. Others mainly direct when certain processes happen, where they occur, and how strongly they run. Together, genes affect how the body develops and functions, and they can influence how you respond to food, stress, or medications. For a more detailed look at this topic, you can find additional information in LearnHub.
Overview
DHPSGene function
What if the gene works
The DHPS gene helps switch on a protein that cells need to make other proteins efficiently. This supports normal cell growth and development.
Risk
What if the gene does not work
More disruptive variants in the DHPS gene can cause a rare condition with developmental delay, intellectual disability, and seizures. Milder variants may lead to later onset or less severe problems, with speech, movement, and growth affected to different degrees.
Treatment
What does that mean for your treatment
No DHPS-specific treatment or drug choice is currently established in clinical guidelines for pathogenic variants in the DHPS gene. Research is exploring spermidine-related approaches for the DHPS gene, but this remains experimental and has not changed routine care.
Gene function
What if the gene works
In everyday cell life, the DHPS gene helps switch on a helper protein called EIF5A. This step lets ribosomes, the cell's machines for making proteins, handle some building tasks more smoothly. Understanding DHPS gene function helps explain how your cells keep protein production moving and support normal growth.
The DHPS gene makes an enzyme that starts a special chemical change needed to switch on EIF5A, a helper protein. It uses a natural cell compound called spermidine to begin that change.
Activated EIF5A helps ribosomes, the cell's machines for making proteins, move through tricky parts of some protein instructions. This allows cells to make certain proteins more smoothly and completely.
By supporting efficient protein production, the DHPS gene contributes to normal cell growth, renewal, and response to everyday demands. This helps many tissues maintain steady routine function.
What is a variant?
A genetic variant is a minor change in the DNA sequence within a gene. These changes are common and help create normal human diversity, such as differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can change how a gene functions more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the DHPS gene can lower how much DHPS protein a cell makes, make it unstable, or weaken its enzyme activity. This is how variants in the DHPS gene affect protein function: milder changes may leave some activity, while more disruptive variants can cause a loss and limit activation of eIF5A, a protein cells need to make other proteins. In people with disease causing DHPS variants, the activity left may influence when symptoms begin and how marked they are.
How variants are linked to conditions
Pathogenic variants in the DHPS gene can cause a rare inherited neurodevelopmental condition. In published cases, DHPS gene variants linked to developmental delay and seizures have also been associated with low muscle tone, feeding difficulties, poor growth, and brain imaging changes. Many affected people have symptoms from infancy or early childhood. This is a genetic diagnosis, not just a risk factor, when disease-causing variants are found in both copies of the gene.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are common across the general population. Most do not have a direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a confirmed diagnosis, especially when several genes and environmental factors are involved. In some cases, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For DHPS, risk is mainly linked to having a harmful change in the gene, and many cases happen for the first time in a child rather than being inherited. If a DHPS change is already present in a family, relatives may have a higher chance of being affected. There is not enough evidence to say that lifestyle or environmental changes lower this risk.
Inheritance of DHPS variants
DHPS-related conditions follow an autosomal recessive inheritance pattern. In practical terms, DHPS gene inheritance usually means a child is affected only when they receive one changed copy of the DHPS gene from each parent. Parents who each carry one variant are typically unaffected carriers, and with each pregnancy there is a 25% chance of having an affected child, a 50% chance of having a carrier child, and a 25% chance of having a child who did not inherit either variant.
What does my DHPS result mean for my family?
For families with a disease-causing DHPS result linked to the known DHPS-related condition, the pattern is recessive, which means parents are often healthy carriers and brothers or sisters may also be carriers or, less often, affected. Other close relatives may also carry the changed gene. Family members may want to review the result with a genetics specialist to understand what it could mean for them and for future children.
Genetic information
Genetic testing
How you find out about variants
Doctors can look for changes in the DHPS gene with genetic testing for DHPS variants. The test usually uses a blood or saliva sample, and a lab reads the gene's DNA code to check for variants. Results can confirm a diagnosis in someone with suggestive features or show whether a family member carries the same variant.
When should I consider getting a genetic test?
Genetic testing for the DHPS gene may be worth considering when a child has unexplained developmental delay, low muscle tone, seizures, or movement problems, especially if more than one family member is affected. It can also help clarify the cause when broader genetic testing finds a change in DHPS.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it explains varies by the condition and the kind of variant involved. Over time, many factors help shape how the body works, including lifestyle, environment, age, and medical history. In some conditions, especially those affected by many genes, genetic information offers context rather than certainty and is most helpful when considered along with other parts of care. In other situations, a genetic result may offer a clear answer. In areas like 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 genes can change how the body breaks down a drug, moves it through the body, or responds to it at its target. This helps explain why the same treatment works well for one person, works less well for another, or causes more side effects in someone else.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can shape a person’s response to medications. It looks at links between genes and drugs to help explain why the same treatment may affect people differently. For many medicines, genes influence either how strongly a drug works or how the body handles it. This information can support treatment decisions that are more informed and more individualized. More detail on this topic is available in the LearnHub.
Drugs influenced by the DHPS gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication response. If you have side effects, problems after starting a new medicine, or questions about how your treatments fit with your health history, it is best to discuss them with your doctor or pharmacist.