Dimethylglycine dehydrogenase deficiency is a very rare inherited metabolic condition that affects how the body breaks down dimethylglycine. It is often recognized in infancy or childhood, but not everyone will have the same experience. Some people with Dimethylglycine dehydrogenase deficiency have few or no clear problems, while others may have developmental delay, a fish-like body odor, or muscle weakness and easy tiredness. The early signs of Dimethylglycine dehydrogenase deficiency can be subtle, so diagnosis usually relies on specialized lab testing and genetic testing. Treatment for Dimethylglycine dehydrogenase deficiency focuses on supportive care and follow-up with a metabolic specialist, and the long-term outlook appears to vary from person to person.
How many people live with Dimethylglycine dehydrogenase deficiency?
Dimethylglycine dehydrogenase deficiency is so rare that no reliable worldwide or U.S. estimate is available from a single trusted source. Major rare disease references, including Orphanet and the NIH Genetic and Rare Diseases Information Center, describe only a small number of reported cases rather than a firm count, so experts do not know how many people are living with it worldwide or in the United States.
Overview
Dimethylglycine dehydrogenase deficiencySymptoms
Dimethylglycine dehydrogenase deficiency can cause a fish-like body odor, developmental delay, weak muscle tone, and seizures. Signs often begin in infancy or early childhood, but some people with dimethylglycine dehydrogenase deficiency have few or no noticeable features.
Outlook and prognosis
Dimethylglycine dehydrogenase deficiency can be mild, and many people do well with monitoring and support. Outlook depends on symptom severity, especially seizures, developmental progress, and response to treatment when needed.
Causes and risk factors
Dimethylglycine dehydrogenase deficiency is caused by changes in the DMGDH gene, usually inherited from both parents, though a new gene change can happen. Family history raises risk, while other factors mainly affect how symptoms show up, not the underlying cause.
Genetic influences
Genetics are central to dimethylglycine dehydrogenase deficiency. It is caused by changes in the DMGDH gene, and different variants can affect how strongly someone is affected, although symptoms can vary even within the same family.
Diagnosis
Dimethylglycine dehydrogenase deficiency is usually suspected from clinical features and unusual lab results. Doctors often confirm the diagnosis of Dimethylglycine dehydrogenase deficiency with genetic tests. Imaging or other tests may help check related findings.
Treatment and drugs
Dimethylglycine dehydrogenase deficiency is treated case by case by a metabolic specialist. Care may include riboflavin and medicines for symptoms such as seizures. Regular follow-up helps track growth, development, and nutrition.
Symptoms
The early features of dimethylglycine dehydrogenase deficiency are often mild and may be easy to miss. Many people living with this condition have few noticeable day-to-day problems. Features vary from person to person and can change over time. When signs are present, they most often involve body odor, tired muscles, or unusual results on metabolic testing.
Many people with dimethylglycine dehydrogenase deficiency have few or no noticeable health problems. The condition may first come to light through newborn screening or blood and urine testing rather than clear daily-life signs.
Some people develop a strong fish-like body odor because the body has trouble breaking down dimethylglycine normally. The smell can come and go and may be more noticeable after foods rich in choline, such as eggs, beans, or fish.
Some may find that their muscles tire more easily during exercise or other sustained activity. In daily life, this can mean needing more breaks on a long walk or feeling worn out sooner than expected.
Doctors often find high levels of dimethylglycine in the blood or urine. This usually does not cause discomfort by itself, but it is an important clue that points to the diagnosis.
How people usually first notice Dimethylglycine dehydrogenase deficiency?
How dimethylglycine dehydrogenase deficiency is first noticed can vary, but families or doctors often pick up early clues in infancy or childhood, such as developmental delay, low muscle tone, or a distinctive fish-like body odor. Because this condition is very rare and some people have only mild symptoms, the first signs of dimethylglycine dehydrogenase deficiency are often recognized only after blood or urine tests show unusually high dimethylglycine levels. For many living with this condition, the diagnosis comes not from one dramatic warning sign, but from putting together subtle early differences and confirming them with metabolic and genetic testing.
Types of Dimethylglycine dehydrogenase deficiency
No distinct types of Dimethylglycine dehydrogenase deficiency are widely recognized.
Can I slow down the onset of symptoms?
At this time, there is no good evidence that lifestyle changes, diet, or medicine can meaningfully delay the start of symptoms in dimethylglycine dehydrogenase deficiency, because it is a rare inherited condition that affects how the body handles certain natural substances from birth. Research is very limited, and while early diagnosis, regular follow-up, and supportive care may help manage problems if they appear, that is different from preventing the condition or stopping symptoms from starting. Even so, staying in touch with a doctor who knows this condition can help families notice changes early and get support when needed.
What genetics can tell you about symptoms
In dimethylglycine dehydrogenase deficiency, genetics can confirm the condition, but it usually cannot tell exactly which symptoms someone will have or how severe they will be. Because only a small number of people with this disorder have been described, symptoms seem to vary widely, and there is not yet a clear, reliable link between a specific gene change and the age symptoms begin, how strong they are, or whether someone will have noticeable problems at all.
Causes and risk factors
Dimethylglycine dehydrogenase deficiency is caused by inherited changes in the DMGDH gene, so the body cannot break down dimethylglycine normally. It is usually passed down in an autosomal recessive pattern, which means a child gets one altered copy from each parent. The main risk factors for dimethylglycine dehydrogenase deficiency are a family history of the condition or parents who are blood relatives. Lifestyle and environment do not cause it, but diet and times of illness may affect how noticeable symptoms are. Having a gene change doesn’t mean you’ll definitely develop the condition.
What are the most common causes or risk factors?
Dimethylglycine dehydrogenase deficiency is mainly caused by inherited changes in the DMGDH gene, and it usually happens when a child gets one changed copy from each parent. The biggest risk factors are having a family history of the condition and having two parents who both carry the changed gene; the chance can also be higher when the parents are blood relatives, such as cousins. There are no well-known lifestyle, diet, or environmental causes.
Environmental and biological risk factors
For dimethylglycine dehydrogenase deficiency, no clear environmental exposures or other body-based factors have been shown to increase the chance of the condition. When people search for environmental risk factors for dimethylglycine dehydrogenase deficiency, the evidence does not point to any well-established ones. Awareness of both biological and environmental influences helps you feel prepared.
Genetic risk factors
When dimethylglycine dehydrogenase deficiency runs in a family, it is usually because both copies of the DMGDH gene are not working as they should. The genetic causes of dimethylglycine dehydrogenase deficiency are most often inherited in an autosomal recessive pattern, which means a child gets one nonworking copy from each parent. This makes family history, carrier status, and having biologically related parents the main inherited risk factors.
DMGDH gene: Dimethylglycine dehydrogenase deficiency is caused by disease-causing changes in the DMGDH gene. This gene helps the body process dimethylglycine, so changes in both copies can lead to the condition.
Recessive inheritance: Most cases follow an autosomal recessive pattern. This means a child usually develops the condition only after inheriting one nonworking copy of the DMGDH gene from each parent.
Carrier parents: Parents who each carry one changed DMGDH gene often have no symptoms themselves. For each pregnancy, there is a 25% chance that their child will inherit both changed copies and have dimethylglycine dehydrogenase deficiency.
Family history: A family history of dimethylglycine dehydrogenase deficiency or a known DMGDH gene change raises the chance that other relatives may also be carriers or affected. If one child in a family has the condition, brothers and sisters may also be at risk depending on the gene copies they inherited.
Related parents: When parents are biologically related, such as cousins, they are more likely to carry the same rare gene change. This can increase the chance of autosomal recessive conditions like dimethylglycine dehydrogenase deficiency.
Lifestyle risk factors
Dimethylglycine dehydrogenase deficiency is an inherited metabolic disorder, so lifestyle habits do not cause it. However, how lifestyle affects Dimethylglycine dehydrogenase deficiency can matter because everyday habits may influence metabolite buildup, odor symptoms, energy balance, and the risk of metabolic stress. The most relevant lifestyle risk factors center on diet, hydration, illness-related stress, and activity patterns rather than on prevention.
Very high intake of choline-rich foods or supplements may increase dimethylglycine pathway load in some people with this condition. That can worsen biochemical imbalance and may make odor-related symptoms more noticeable.
Products containing choline, betaine, or related methyl-donor supplements may aggravate metabolite accumulation if used without specialist guidance. Reviewing all over-the-counter supplements is an important part of managing lifestyle risk factors for Dimethylglycine dehydrogenase deficiency.
Prolonged fasting, skipped meals, or extreme dieting can increase catabolic stress and may make metabolic control less stable. Regular meals may help reduce the chance of symptom flares or low-energy periods.
Poor fluid intake can make concentrated body secretions and odor symptoms more noticeable in people who develop trimethylamine-like body odor. Good hydration may support day-to-day symptom management, especially during heat, exercise, or illness.
Risk prevention
For dimethylglycine dehydrogenase deficiency, there is usually no known way to prevent the genetic condition itself because it is inherited. Prevention instead means lowering the chance of problems, catching changes early, and supporting growth, energy, and day-to-day health. Different people need different prevention strategies—there’s no single formula. For many living with dimethylglycine dehydrogenase deficiency, this can mean regular follow-up even when symptoms are mild or the early symptoms of dimethylglycine dehydrogenase deficiency are easy to miss.
If this condition runs in your family, genetic counseling can help clarify the chance of dimethylglycine dehydrogenase deficiency in future children. It can also explain carrier testing and reproductive options in plain language.
Regular care with a metabolic or genetics team can help prevent complications of dimethylglycine dehydrogenase deficiency. Follow-up visits may include tracking growth, development, energy levels, and lab results over time.
Some people with dimethylglycine dehydrogenase deficiency may benefit from a personalized eating plan to support steady energy and avoid nutritional stress. A dietitian familiar with metabolic disorders can help make sure meals are safe, balanced, and realistic for daily life.
Infections, dehydration, and long gaps without food can sometimes put extra strain on the body in inherited metabolic conditions, including dimethylglycine dehydrogenase deficiency. Having a sick-day plan with your care team may help lower the risk of worsening symptoms.
Can you prevent Dimethylglycine dehydrogenase deficiency?
No. Dimethylglycine dehydrogenase deficiency is a very rare condition caused by a gene change passed down in families, so there is no proven way to prevent it. If it runs in your family, genetic counseling and family testing may help you understand the chance of having a child with the condition and talk through your options.
Transmission
Dimethylglycine dehydrogenase deficiency is not infectious, so it cannot spread from one person to another through touch, coughing, sex, food, or everyday contact. Instead, the genetic transmission of Dimethylglycine dehydrogenase deficiency usually follows an autosomal recessive pattern, which means a child needs to inherit one nonworking copy of the gene from each parent.
Most parents of a child with Dimethylglycine dehydrogenase deficiency are healthy carriers and do not know they carry the change. When both parents are carriers, each pregnancy has a 25% chance of resulting in a child with the condition, a 50% chance of a child who is also a carrier, and a 25% chance of a child who inherits neither changed copy.
When to test your genes
Consider genetic testing if you or your child has unexplained developmental delay, seizures, muscle fatigue, or a persistent fish-like body odor, especially when urine or blood testing shows high dimethylglycine. Testing can confirm the diagnosis, guide metabolic follow-up, and help with family planning.
Diagnosis
Dimethylglycine dehydrogenase deficiency is a very rare inherited condition, so diagnosis often starts when a child has developmental concerns, seizures, low muscle tone, or unusual results on metabolic testing. Because the signs can overlap with other disorders, doctors usually combine the pattern of symptoms with lab findings and a genetic test to confirm the diagnosis of dimethylglycine dehydrogenase deficiency. Some diagnoses are clear after a single visit, while others take more time.
Doctors usually begin by asking about development, feeding, energy level, seizures, and any learning or movement concerns. A detailed family and health history can help show whether a rare inherited metabolic condition might be involved.
The exam looks for signs such as low muscle tone, delays in reaching milestones, or other neurologic features. These findings do not confirm the condition on their own, but they help guide which metabolic and genetic tests are most useful.
Blood and urine tests can measure substances linked to how the body processes certain nutrients, including dimethylglycine and related compounds. These results may point toward this disorder and other lab tests may help rule out common conditions.
Genetic tests are used to look for changes in the DMGDH gene, which causes dimethylglycine dehydrogenase deficiency. Finding disease-causing variants in both copies of the gene usually confirms the genetic diagnosis of dimethylglycine dehydrogenase deficiency.
How is Dimethylglycine dehydrogenase deficiency diagnosed?
Doctors usually diagnose dimethylglycine dehydrogenase deficiency with blood and urine tests that show very high levels of dimethylglycine, a substance the body normally breaks down. They also look at symptoms, medical history, and other test results to rule out more common causes of similar problems. A genetic test may then be used to confirm the diagnosis by finding a change in the gene linked to this condition.
Stages of Dimethylglycine dehydrogenase deficiency
Dimethylglycine dehydrogenase deficiency does not have defined progression stages. This is because it is usually identified as a metabolic condition based on symptoms and lab findings, rather than a predictable step-by-step worsening over time. Symptoms of dimethylglycine dehydrogenase deficiency can vary widely, and some people have few problems while others may have developmental, muscle, or seizure-related concerns that need follow-up. Different tests may be suggested to help confirm the diagnosis, including blood and urine studies, careful review of symptoms, and sometimes genetic testing.
Outlook and prognosis
The outlook for people with dimethylglycine dehydrogenase deficiency is not well defined because only a very small number of cases have been reported, and the severity appears to vary widely. Some individuals have developmental delay, seizures, or other neurologic and behavioral features that may require ongoing multidisciplinary care, while others may have milder manifestations. When symptoms are present, prognosis often depends more on the degree of neurologic involvement and how well complications such as seizures, learning difficulties, or metabolic stress are managed than on the biochemical finding alone. There is not enough published evidence to establish a typical life expectancy, but current reports do not suggest a uniformly progressive or inevitably fatal course. Mortality data are essentially unavailable, so long-term outcomes are best assessed on an individual basis with regular follow-up by metabolic and neurology specialists.
Long-term effects
Because dimethylglycine dehydrogenase deficiency is extremely rare, the long-term picture is often based on a small number of reported cases rather than large studies. Long-term effects vary widely, with some people having mild day-to-day effects and others having more noticeable developmental or neurologic differences. In children, the main long-term concerns usually relate to learning, development, and brain function, while adulthood outcomes are less clearly described in the medical literature.
Some people with dimethylglycine dehydrogenase deficiency have ongoing delays in learning, thinking, or reaching developmental milestones. For many, this can mean needing extra support with speech, schoolwork, or independent daily tasks over time.
Language development may stay slower than expected, especially in early childhood. Some may continue to have trouble expressing themselves clearly or understanding complex language as they grow.
Seizures have been reported in some people living with dimethylglycine dehydrogenase deficiency and can be an important long-term concern. In those affected, seizure patterns may vary from occasional episodes to a more persistent neurologic issue that needs follow-up over time.
Some reported long-term features involve behavior, attention, or social interaction differences. In day-to-day life, this can show up as trouble focusing, adjusting to changes, or keeping up in group settings.
How is it to live with Dimethylglycine dehydrogenase deficiency?
Living with dimethylglycine dehydrogenase deficiency can look very different from one person to the next, because this condition is extremely rare and some people have few or no noticeable symptoms, while others may have developmental delays, learning challenges, or an unusual body odor that can affect confidence and social comfort. For many living with this condition, daily life may include developmental support, school accommodations, and follow-up with metabolic or genetics specialists, with routines shaped more by their specific symptoms than by the diagnosis name itself. For families and other close supports, the biggest impact is often practical and emotional: coordinating care, explaining a rare condition to others, and helping the person feel understood rather than defined by it.
Treatment and drugs
Dimethylglycine dehydrogenase deficiency is a very rare metabolic condition, and treatment usually focuses on the problems it is causing in daily life rather than on a single standard drug. Some people with dimethylglycine dehydrogenase deficiency may not need specific treatment, while others may need care for symptoms such as developmental delays, seizures, or low muscle tone. Treatment often looks different for each person, and may include regular follow-up with a metabolic specialist, physical or speech therapy, seizure medicines if needed, and support with nutrition and growth. Because early symptoms of dimethylglycine dehydrogenase deficiency can vary, the care plan is usually tailored over time based on how someone is developing and feeling.
Can you cure Dimethylglycine dehydrogenase deficiency?
No, there is currently no cure for dimethylglycine dehydrogenase deficiency, a rare condition that affects how the body breaks down certain natural substances. Treatment focuses on managing symptoms and supporting overall health, and this may include diet guidance, supplements, and help with learning or development if needed. Regular follow-up can help doctors watch for changes and adjust care over time.
Non-drug treatment
Day-to-day care for people with dimethylglycine dehydrogenase deficiency is usually centered on nutrition, development, and regular follow-up rather than a single procedure or cure. Managing this condition often means building a plan around symptoms, since some people have few problems while others need ongoing support for learning, movement, or feeding. Because this is a very rare condition, non-drug treatment for dimethylglycine dehydrogenase deficiency is usually personalized with help from a metabolic specialist.
A metabolic doctor and dietitian can help shape an eating plan that meets growth needs while avoiding unnecessary dietary stress. In some cases, this may include watching intake of nutrients linked to dimethylglycine metabolism, but changes should be individualized rather than done on your own.
If meals are slow, tiring, or hard to manage, feeding therapy can make eating safer and more efficient. This can be especially helpful for children who struggle with texture, coordination, or taking in enough calories.
Speech and language therapy can support communication, understanding, and social interaction when development is delayed. For many families, treatment begins not at the pharmacy, but with simple practice woven into play, school, and daily routines.
Physical therapy can help improve strength, balance, posture, and everyday movement. Many living with dimethylglycine dehydrogenase deficiency may benefit from guided exercises if low muscle tone or delayed motor milestones are part of the condition.
Your genes may have an impact on how drugs work for you
For people living with dimethylglycine dehydrogenase deficiency, treatment usually centers more on careful monitoring, nutrition, and managing symptoms than on a specific long-term medicine, so there are no well-established examples of common drugs that are known to work differently because of this condition’s gene change. Still, many living with this disorder may also take medicines for things like seizures, behavior changes, or other health needs, and how well those drugs work can vary from one person to another for the usual reasons, such as age, liver function, kidney function, and other genetic differences not directly tied to this condition. In day-to-day care, this means doctors often watch closely for side effects or poor response and adjust treatment based on how the person feels and what blood tests show.
Pharmacological treatments
For many living with dimethylglycine dehydrogenase deficiency, there is no standard medicine that directly corrects the underlying metabolic problem. Treatment is usually individualized and focused on symptoms, because some people have few or no day-to-day health problems while others may need care for related issues. If you are looking for treatment for dimethylglycine dehydrogenase deficiency, a metabolic specialist will usually decide whether medication is needed at all.
There is currently no approved medicine that specifically treats dimethylglycine dehydrogenase deficiency itself. In many cases, care is mainly monitoring and support rather than routine drug treatment.
Riboflavin, also known as vitamin B2, may sometimes be considered by a metabolic specialist because this pathway depends on a riboflavin-related enzyme helper. Evidence is limited, so it is not a standard treatment for everyone with dimethylglycine dehydrogenase deficiency.
If someone with dimethylglycine dehydrogenase deficiency has seizures, doctors may use standard anti-seizure medicines such as levetiracetam or valproate based on the seizure type and the person's age. These drugs treat the symptom, not the underlying enzyme problem.
Other medicines, if needed, are chosen to treat specific problems such as headaches, attention symptoms, or mood and behavior concerns. Not everyone responds to the same medication in the same way.
Genetic influences
For families dealing with dimethylglycine dehydrogenase deficiency, the inherited cause is well established. It happens when both copies of the DMGDH gene are not working as they should, which lowers the body’s ability to break down dimethylglycine. The condition is passed down in an autosomal recessive pattern, so a child is affected only after inheriting one changed copy from each parent. A carrier means you hold the gene change but may not show symptoms, which is why parents often do not realize they carry it until testing is done. People with dimethylglycine dehydrogenase deficiency can be affected very differently, even within the same family, so the gene result does not always predict day-to-day impact on its own. When families are asking about the inheritance of dimethylglycine dehydrogenase deficiency, genetic testing can confirm the diagnosis and help estimate the chance that future children or other relatives could also have the condition.
Is Dimethylglycine dehydrogenase deficiency genetic?
Genetics are central to dimethylglycine dehydrogenase deficiency. It is caused by changes in the DMGDH gene, and different variants can affect how strongly someone is affected, although symptoms can vary even within the same family.
Having a genetic risk is not necessarily a diagnosis
Changes in genes are a normal part of being human and are common across the population. Most of these variants do not directly affect health and are simply part of natural human diversity. For many genes, having a variant associated with a condition suggests a possible link rather than a certain diagnosis, especially when more than one gene and environmental factors play a role. In some situations, though, one well-understood variant in a particular gene is enough to confirm a diagnosis.
Pharmacogenetics—how genetics influence drug effects
When daily symptoms or unusual lab results lead to genetic testing for dimethylglycine dehydrogenase deficiency, the result mainly helps doctors confirm the diagnosis and understand that the body is not breaking down dimethylglycine normally. Because this condition is caused by changes in the DMGDH gene, there is currently no proven medicine that corrects the underlying enzyme problem, so treatment is usually individualized and focused on the symptoms and metabolic changes each person has. Unlike some genetic conditions, there is no well-established evidence that one specific DMGDH variant predicts a clearly better response to a particular drug. Genetics is only one factor, and doctors also use symptoms, blood and urine findings, age, and overall health when deciding whether to monitor, use supportive treatments, or avoid unnecessary medicines. For many living with dimethylglycine dehydrogenase deficiency, this means care is guided more by careful follow-up and specialist advice than by a single standard medication.
Interactions with other conditions
For people living with dimethylglycine dehydrogenase deficiency, the main concern is usually not a specific set of linked diseases, but how this very rare metabolic condition can overlap with other health problems that affect the brain, growth, or energy levels. If someone also has a seizure disorder, developmental delay, or another inherited metabolic condition, it may be harder to tell which issue is driving symptoms such as fatigue, behavior changes, or learning difficulties. Doctors call it a comorbidity when two conditions occur together. In practice, illnesses that put stress on the body, such as infections or poor nutrition, may also make symptoms of dimethylglycine dehydrogenase deficiency more noticeable in some people, much like they can in other metabolic disorders. Because so few cases have been described, there is no well-established pattern showing that dimethylglycine dehydrogenase deficiency directly causes common diseases elsewhere in the body, but careful follow-up can help sort out overlapping problems and guide care.
How genes can cause diseases
Humans have more than 20,000 genes, each carrying out one or a few specific functions in the body. One gene instructs the body to digest lactose from milk, another tells the body how to build strong bones and another prevents the body's cells from beginning to multiply uncontrollably and developing into cancer. As all of these genes combined are the building instructions for our body, a defect in one of these genes can have severe health consequences.
Through decades of genetic research, we know the genetic code of any healthy/functional human gene. We have also identified that in certain positions on a gene, some individuals may have a different genetic letter from the one you have. We call these hotspots "Genetic Variations" or "Variants" in short. In many cases, studies have been able to show that having the genetic letter "G" in the position makes you healthy, but having the letter "A" in the same position disrupts the gene function and causes a disease. Genopedia allows you to view these variants in genes and summarizes all that we know from scientific research, which genetic letters (Genotype) have good or bad consequences on your health or on your traits.
What other conditions can cause similar symptoms to Dimethylglycine dehydrogenase deficiency?
Because this condition is very rare and its signs can vary, doctors may also consider trimethylaminuria, which can cause a strong fish-like body odor, and other rare inherited conditions that affect how the body handles certain nutrients and can lead to low muscle tone, tiredness, developmental delay, or seizures. Depending on what symptoms are most noticeable, more common conditions such as autism, learning differences, or epilepsy may also seem similar at first.
History
For many living with dimethylglycine dehydrogenase deficiency, the story often begins with everyday concerns that do not at first seem to point to a rare condition. A baby or child may have low muscle tone, slower development, or seizures, and families can spend years looking for an explanation. Because these signs can overlap with many other conditions, dimethylglycine dehydrogenase deficiency was not recognized early in medical history as its own distinct disorder.
As medical science evolved, doctors began to sort rare metabolic conditions by looking at body chemicals in blood and urine, not just symptoms. That shift mattered here. Researchers noticed unusually high levels of dimethylglycine, a substance involved in normal energy and nutrient processing, in a small number of people with neurologic or developmental concerns. Over time, this helped separate dimethylglycine dehydrogenase deficiency from other causes of developmental delay and from better-known metabolic disorders.
Later studies linked the condition to a problem with the enzyme that normally breaks down dimethylglycine. That gave doctors a clearer way to confirm the diagnosis through specialized lab testing, and later through genetic testing, rather than relying only on symptoms. Not every early description was complete, yet together they helped build the picture used today: dimethylglycine dehydrogenase deficiency is a very rare inherited metabolic condition, and its effects can vary widely from one person to another.
Because so few cases have been reported, the history of dimethylglycine dehydrogenase deficiency is still fairly short and still developing. What doctors know now comes from a mix of case reports, lab research, and long-term follow-up of a small number of families. This is one reason the early symptoms of dimethylglycine dehydrogenase deficiency can still be hard to recognize quickly, and why people living with the condition are often cared for by specialists familiar with rare metabolic diseases.