The DMGDH gene gives your body instructions to make an enzyme that helps break down dimethylglycine, a small molecule involved in processing choline from food. The protein made by this gene helps your liver handle this step smoothly. If the gene does not work as expected, dimethylglycine can build up and cause a rare condition called dimethylglycinuria. Some people with disruptive variants may notice a fishy body odor, while others have few or mild symptoms.
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 produce proteins, the parts of cells that do much of the work. Others mainly help manage when certain processes happen, where they take place, and how strongly they operate. Together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. For a more detailed look at this topic, you can find more in the LearnHub.
Overview
DMGDHGene function
What if the gene works
The DMGDH gene helps your cells break down dimethylglycine, a small molecule made when your body uses choline. This supports normal nutrient processing in mitochondria, the parts of cells that make energy.
Risk
What if the gene does not work
DMGDH gene variants can reduce breakdown of dimethylglycine and cause dimethylglycine dehydrogenase deficiency. Effects may range from none to a fish-like body odor, with milder or more severe variants influencing how much dimethylglycine builds up.
Treatment
What does that mean for your treatment
No DMGDH-specific treatment or drug-selection approach is currently established for people with a pathogenic variant in the DMGDH gene. Research on the DMGDH gene remains early and has not led to a guideline-based targeted therapy.
Conditions associated with DMGDH
Gene function
What if the gene works
Your cells use the DMGDH gene during routine nutrient processing. It helps handle dimethylglycine, a small compound made when the body uses choline-related nutrients. This step also feeds small carbon units into the folate system, which supports normal day to day cell work.
The DMGDH gene helps cells turn dimethylglycine into sarcosine. This is part of how the DMGDH gene helps break down choline-related nutrients and keep small molecules moving through everyday metabolism.
During that reaction, its protein passes a one-carbon unit into the folate system, the body’s network for handling tiny carbon building blocks. This helps support routine cell chemistry and the supply of materials cells use as they grow and renew themselves.
This gene connects one step of choline metabolism with later steps that handle sarcosine and glycine-related compounds. In practical terms, it helps cells recycle nutrient pieces into forms they can keep using.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, or how 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 substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the DMGDH gene can alter the enzyme’s shape, stability, or ability to bind its helper molecule, so cells break down dimethylglycine less effectively. This is how DMGDH gene variants affect enzyme activity: some changes leave partial function, while more disruptive variants can greatly reduce or nearly stop activity and lead to stronger dimethylglycine buildup. In rare DMGDH deficiency, that difference in residual activity may influence whether features are mild or more noticeable.
How variants are linked to conditions
Pathogenic variants in the DMGDH gene can cause dimethylglycine dehydrogenase deficiency, a very rare inherited metabolic condition. Reported features have included a fish-like body odor, high dimethylglycine levels on lab testing, and sometimes muscle tiredness, although symptoms can vary. In clinical genetics, the clearest DMGDH gene variants and dimethylglycine dehydrogenase deficiency link is this rare condition rather than a broad range of common diseases.
A variant is not necessarily a diagnosis
Genetic variants are a usual feature of human biology and are widely found across the population. Most do not directly affect health and simply contribute to normal human diversity. For many genes, having a variant associated with a condition points to a potential link, not a confirmed diagnosis, particularly when several genes and environmental influences play a role. In some situations, though, one well-established variant in a particular gene is 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 risks related to the DMGDH gene. For many living with a DMGDH change, risk is shaped mainly by the exact genetic change rather than everyday habits. Anyone concerned about personal or family risk should speak with a doctor or genetic counselor.
Inheritance of DMGDH variants
For families looking into how the DMGDH gene is passed down, DMGDH-related dimethylglycine dehydrogenase deficiency is inherited in an autosomal recessive pattern. This means a child usually needs to inherit two disease-causing variants in the DMGDH gene, one from each parent, to have the condition. Parents who each carry one variant are typically 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 without either variant.
What does my DMGDH result mean for my family?
DMGDH results linked to dimethylglycine dehydrogenase deficiency usually matter for family members in a recessive pattern. This means parents are often healthy carriers, and brothers or sisters may also be carriers or, less often, have the condition. Other relatives on both sides of the family may carry the same gene change, especially if there is a family history of similar findings.
Genetic information
Genetic testing
How you find out about variants
To find out about variants in the DMGDH gene, a blood, saliva, or cheek swab sample can be used for genetic testing for DMGDH variants. A lab reads the gene's DNA code and compares it with the usual sequence to identify variants that may help explain symptoms or clarify whether a variant runs in a family.
When should I consider getting a genetic test?
You may consider genetic testing for DMGDH if you or your child has a strong fish-like body odor or other signs of a rare problem breaking down dimethylglycine, especially when urine or blood tests show high dimethylglycine. It can also help if this condition runs in the family or a close relative has a confirmed DMGDH gene change.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but what it shows depends on the condition and the kind of variant involved. Many factors, including lifestyle, environment, age, and medical history, influence how the body works over time. For some conditions, especially those shaped by many genes, genetic information offers context rather than certainty and is best viewed alongside 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. A treatment that works well for one person may work less well for another, or may cause more side effects, because the body can absorb, break down, move, or respond to drugs in different ways. These differences are common and can influence both how strongly a medicine works and how sensitive someone is to it.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genes affect the way people respond to medicines. It studies relationships between genes and drugs to help explain why the same treatment can work differently from one person to another. For many drugs, genes can influence both how strongly a medicine acts and 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 DMGDH gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choice or dosing. If you have concerns about side effects, a new medicine, or how treatments fit with your overall health, talk with your doctor or pharmacist.