The LDHD gene helps your body break down D-lactate, a less common form of lactic acid made during normal body processes and by gut bacteria. If both copies of this gene do not work properly, D-lactate can build up and may be linked to episodes of confusion, slurred speech, poor balance, or other symptoms when levels rise. This gene plays an important role in keeping acid levels in the body more balanced.
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or regulate processes in the body. Some genes provide the information needed to make proteins, which do the work inside cells. Others mainly help direct when certain processes happen, where they happen, and how strongly they are carried out. Together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. More information about this topic is available in the LearnHub.
Overview
LDHDGene function
What if the gene works
The LDHD gene helps your body break down D-lactate, a less common form of lactic acid. This supports normal cell energy use and helps keep D-lactate from building up in the body.
Risk
What if the gene does not work
Variants in the LDHD gene can reduce D-lactate breakdown, leading to higher D-lactate in blood and urine. Effects may range from no symptoms or mild findings to D-lactic acidosis, with more disruptive variants often linked to greater functional impact.
Treatment
What does that mean for your treatment
At present, no LDHD-specific treatment or drug-selection approach is established for people with a pathogenic or loss-of-function variant in the LDHD gene. The LDHD gene is being studied for its role in D-lactate metabolism, mainly as a clue to disease mechanisms rather than as a current drug target.
Gene function
What if the gene works
Your cells make small amounts of a substance called D-lactate during normal metabolism. LDHD helps clear this substance by changing it into a form the body can use. Understanding what the LDHD gene does helps explain how cells keep everyday chemical reactions in balance.
LDHD helps your cells process D-lactate, a less common form of lactate made during normal metabolism. This supports balanced chemistry inside cells and keeps this byproduct moving through normal pathways.
The LDHD protein converts D-lactate into pyruvate, a small molecule cells can use in core energy pathways. This connects D-lactate processing with everyday energy production.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These differences are common and help shape normal human diversity, such as variation in appearance, metabolism, or how the body responds to environmental influences. Many variants do not cause any noticeable effect and simply represent natural genetic variation. In some cases, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the LDHD gene can change the protein’s shape, make it less stable, disrupt how it folds, or stop the cell from making a full protein at all. This is how LDHD gene variants affect protein function: some single letter changes may leave partial activity, while more disruptive variants can cause a much larger loss of activity. That range can influence how strongly cells struggle to clear D-lactate and, in rare LDHD-related disease, may affect how early features appear.
How variants are linked to conditions
LDHD does not yet have a broadly confirmed link to a specific health condition, and research on LDHD gene variants linked to health conditions is still developing. Anyone with a confirmed LDHD-related diagnosis should rely on guidance from their doctor or genetic counselor rather than general information.
A variant is not necessarily a diagnosis
DNA variants are a normal feature 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 suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors also play a part. In some cases, though, a single well-characterized variant in a particular gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific factors that increase or reduce health risk related to the LDHD gene. If an LDHD change is found on testing, a doctor or genetic counselor can help explain what it may mean for you and your family.
Inheritance of LDHD variants
LDHD-related conditions are inherited in an autosomal recessive pattern. This means a person usually needs to inherit two disease-causing variants in the LDHD gene, one from each parent, to be affected. Parents who each carry one variant are typically unaffected carriers, and with each pregnancy they have a 25% chance of having a child with the condition, a 50% chance of having a child who is also a carrier, and a 25% chance of having a child without either variant. In practical terms, LDHD gene inheritance does not usually involve one affected parent passing the condition directly to every generation.
What does my LDHD result mean for my family?
For LDHD, the condition linked to clearly disease-causing changes is understood to run in families in a recessive way. In practical terms, close relatives may also be carriers, and siblings could have the same condition if they inherited the same changed copy from both parents. Parents are usually healthy carriers, while children of someone with LDHD-related disease are usually carriers unless the other parent also carries a changed LDHD gene.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for LDHD variants uses a blood or saliva sample to read the LDHD gene and look for DNA changes. It may be done as a single-gene test or as part of a broader panel or exome test, with results showing whether a variant was found and how it is classified.
When should I consider getting a genetic test?
There is not yet a broadly established LDHD-specific reason for genetic testing in most people. Testing decisions are best made with a doctor or genetic counselor based on symptoms, unusual lab findings such as high D-lactate, or a family history suggesting a rare inherited metabolic condition.
A genetic result is only one part of your health story
A genetic finding can provide useful insight, but how much it reveals depends on the condition and the kind of variant involved. Over time, many factors shape how the body functions, including lifestyle, environment, age, and medical history. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is most helpful when considered with other parts of care. In other situations, a genetic result may give 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. Two people can take the same treatment and have different results because their bodies may break down, transport, or respond to a drug in different ways. These differences are common and can influence how well a medicine works or how likely someone is to notice side effects. Medication response also depends on other factors, including age, liver and kidney function, and other medicines a person takes.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences affect the way a person responds to medicines. By looking at links between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medications, genes can influence how strongly a drug works or how the body handles it. This information can support more informed and personalized treatment decisions. More information about this topic is available in the LearnHub.
Drugs influenced by the LDHD gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medicine choice or dose, so any concerns about symptoms, side effects, or how a treatment is working are best discussed with your doctor.