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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a genetic condition and there is no cure. A person will never outgrow the disorder. The disorder is caused by a change in the ACADM gene. People with MCAD deficiency will to make sure that avoid going too long without food to prevent a metabolic crisis. Although there is no cure, people who are diagnosed early and properly treated, the prognosis is that they can have a normal life expectancy.

In a family with a person with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, tests can be done to see whether other family members are carriers for the disorder. (Carriers do not have symptoms and have one working and one non-working copy of the ACADM gene.) Doctors will run blood and urine tests on at-risk family, which include all first degree relatives. Blood and urine tests are used to detect substances that are abnormally elevated in people with MCAD deficiency including acylcarnitine, organic acids, and acylglycine.

Genetic testing can also be used to detect affected family members. However, the specific gene changes in the ACADM gene in that family need to be known to perform such testing. If the gene change is known, all siblings and other at-risk relatives can be tested. Molecular genetic testing, which are tests that look for changes in genes, can be performed.

A genetic counselor or a physician with experience in MCAD deficiency can provide advice about how a confirmed diagnosis can affect other family members. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

Support groups are organizations that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. Support groups for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency include the FOD Family Support Group. This organization represents all fatty oxidation disorders.

There are also online communities for rare disorders such as RareConnect, [link url="RareConnect” target=”_blank”>RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

Rare diseases like medium-chain acyl-CoA dehydrogenase (MCAD) deficiency can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a pediatric metabolic disease specialist; a liver disease specialist (hepatologist) who can assess and treat symptoms affecting the liver; a dietitian who ensure proper nutritional needs are met; and a genetic counselor who can help people understand the disease and the implications for the person and other family members.

Talk to your doctor about the best specialists in your area to follow an individual with MCAD deficiency.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a genetic condition that prevents a person’s body from being able to break down a specific type of body fat to make energy. Most of the time, the body uses available fuels such as sugars to make energy. However, if a person is sick and not eating (fasting), dieting, or stressed, they may not be eating a normal amount of food to provide the body with those sugars. In these times, the body uses other sources of fuel such as fatty acids. A person with MCAD deficiency cannot break down these fatty acids and this causes medical problems during illness or fasting. This is called a metabolic crisis or metabolic decompensation. These problems may include problems eating, nausea, vomiting, diarrhea, a lack of energy (lethargy) or infants or children being very sleepy, low blood sugar (hypoglycemia), and liver problems. Without treatment, these medical issues can quickly turn serious and lead to heart problems, breathing difficulties, coma, or even sudden death. To be as healthy as possible, people with MCAD deficiency need to avoid going long periods of time without eating. They should also have an emergency plan if they become ill or are unable to eat. If diagnosed and started on an appropriate therapy, people with MCAD deficiency can often lead healthy lives with a normal life expectancy.

People with MCAD deficiency may experience their first symptoms when they are a baby or young child. In the past, MCAD deficiency was not often diagnosed until a baby was very sick or after they passed away from apparent sudden infant death syndrome (SIDS). Now testing at birth (newborn screening) happens in all states in the United States. A newborn screen that suggests a baby may have MCAD deficiency is one with high levels of a specific fat. This result is called "Elevated C8 (often also C6, C10, C10:1 and C8/C10)." Having a positive newborn screen with these high levels does not mean for sure that a baby has been diagnosed with MCAD deficiency, but doctors usually work closely with metabolic dietitians and medical geneticists as they learn more about the baby and do additional blood tests to confirm a diagnosis.

To find a metabolic dietitian specializing in diets for people with metabolic conditions like MCAD deficiency, visit the GMDI Find a Metabolic Dietitian webpage.

To find a medical professional nearby who can discuss information and testing, a medical geneticists can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare disorder. Many physicians and many emergency personnel will not be familiar with the disorder. People with MCAD deficiency should carry an emergency letter that explains MCAD deficiency and the appropriate management or treatment of a metabolic crisis. Metabolic crisis in MCAD deficiency occurs when people with the disorder do not eat for a period of time have higher than normal energy demands. The time gap for not eating is defined as 8 hours for infant between 6 months and 12 months of age, up to 10 hours for children aged 2, and up to 12 hours for children over 2 years of age (this applies to teenagers and adults as well).

The letter should also explain the importance of preventive steps to take. The letter should also have the names and contact information of the patient’s doctors and metabolic specialists.

People with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are at risk of having an episode of metabolic crisis or metabolic decompensation. These episodes can occur when a person does not for a period of time or during times of higher energy demands for the body. The time gap is defined as 12 hours or more in children over 2 years of age (this applies to teenagers and adults as well); up to 10 hours during the second year of life; and up to about eight hours for infants between 6 and 12 months old. People with MCAD deficiency lack an enzyme that is necessary to break down fats for energy. Normally, the body uses a common sugar called glucose for energy, but when a person hasn’t eaten for a long time, the body may not have enough glucose and instead starts to use fats for energy. People with MCAD deficiency cannot breakdown (metabolize) these fats to use for energy. The buildup of these fats inhibits or affects other chemical processes in the body and leads to lots of problems.

Common symptoms include vomiting, nausea, diarrhea, and very low energy levels so that infants are very sleepy or hard to wake up. The liver may be abnormally large, a condition called hepatomegaly. If individuals are tested during an episode they may have low blood sugar, which is called hypoglycemia. Severe episodes can lead to problems breathing, seizures, brain damage, coma and sudden death because the heart may stop.

If people with MCAD deficiency avoid going long periods without eating and take precautions and proper care of themselves, they can avoid having a metabolic crisis.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is caused by a change (variant) in the ACADM gene. Not all changes in a gene necessarily cause disease. If a change is known to cause MCAD deficiency, it is known as a pathogenic or disease-causing variant. Specific changes in the ACADM gene(s) can cause MCAD deficiency. However, sometimes gene changes are found and scientists are unsure what it means, either because it has not been found before or has only been found in a few people. This is known as a variant of unknown significance. If you have a variant of unknown significance in the ACADM gene(s), talk to your doctor about further testing that may help find out whether the gene change is pathogenic or not. A genetic counselor may also be able to help you review your test results. Genetic counselors can be found on the National Society of Genetic Counselors website.

If your baby receives a positive result for high levels of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency from newborn screening, it does not mean that your child definitely has MCAD deficiency. Newborn screening can cause "false positives." Further testing is needed to know for sure whether a child has MCAD deficiency.

If you have concerns about your child with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, talk you physicians and metabolic specialist. The time gap for not eating is defined as 8 hours for infant between 6 months and 12 months of age, up to 10 hours for children aged 2, and up to 12 hours for children (and adults) over 12 years of age. During times of illness, when a child may not eat and the body may have higher energy demands, physicians may recommend glucose supplementation with glucose tablets or non-diet drinks or orange juice. Glucose provides a main source of energy for the body. By supplementing glucose, this prevents the body from using fats for energy, which people with MCAD deficiency cannot break down.

Parents should talk to their doctors and metabolic specialists on how to handle illness or other situations where children may not eat.

Sometimes, surgical procedures require people to not eat for a period of time before the surgery or after the surgery or both. This presents risks for people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Doctors may recommend that clear liquids be given up to 4 hours before the surgery and that glucose be given intravenously before the surgical procedure begins and afterward until the person can eat enough food on their own to avoid an episode of metabolic crisis. Patients and parents of children with MCAD deficiency should discuss how to handle situations like surgery with their doctors and metabolic specialists so they have a clear understanding of how to handle these situations.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is caused by gene changes in the ACADM gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly or be overproduced.

To find a medical professional nearby who can discuss information about gene changes in MCAD deficiency, a medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

Infants with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency usually appear normal at birth. Symptoms usually appear somewhere between 3 and 24 months of age, although some infants become sick within a couple days of birth. Sometimes, symptoms first appear later in childhood by the age of 6 or, rarely, as adults. Symptoms usually first appear after an infant or child does not eat for an extended period of time, between 6 to 12 hours depending on their ages. This can occur when they sleep overnight without feeding or during an illness like the flu, a cold, or an ear infection. The body normally gets its energy from a sugar called glucose, but in times of diet or not eating for a period of time, stress or illness, the body may use up glucose and instead uses alternative substances for energy, specifically fats. Because of a deficiency in an enzyme, infants, children and adults with MCAD deficiency cannot breakdown these fats, which build up in the cells and tissues of the body and interfere with other chemical processes in the body.

Common symptoms include vomiting, nausea, diarrhea, and very low energy levels so that infants are very sleepy or hard to wake up. The liver may be abnormally large, a condition called hepatomegaly. If individuals are tested during an episode they may have low blood sugar, which is called hypoglycemia. Severe episodes can lead to problems breathing, seizures, brain damage, coma and sudden death because the heart may stop.

As long as MCAD deficiency is properly diagnosed (as with newborn screening programs) and treated by frequent feedings to avoid long periods without food (fasting), the prognosis of the disorder is excellent and most people with have normal lifespans.

If an infant has a positive newborn screening test for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, then further testing will be done to confirm that the child has the disorder. If the diagnosis is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in treating the disorder. Treatment requires that parents make sure that their infants or children do not go long periods of time without eating. Other initial steps will depend on how the disorder is affecting a person and whether the disorder was diagnosed after an episode of metabolic crisis. Families should see a genetic counselor to help understand the genetic aspects of this disorder. Genetic counselors can be found on the National Society of Genetic Counselors website.

Families may consider contacting a support group after a diagnosis of MCAD deficiency. The FOD Family Support Group provides information, support, guidance, referrals and networking among other programs for individuals and families affected by fatty oxidation disorders like MCAD deficiency.

Children with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency can develop symptoms when they go for a period of time without eating. Generally, this is broken down as

People with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency should carry an emergency letter that explains MCAD deficiency and the appropriate management or treatment of a metabolic crisis. Metabolic crisis in MCAD deficiency occurs when people with the disorder do not eat for a period of time or during times of higher energy demands for the body. The time gap is defined as 8 hours for infant between 6 months and 12 months of age, up to 10 hours for children aged 2, and up to 12 hours for children over 2 years of age (this applies to teenagers and adults as well). The letter should also explain the importance of preventive steps to take. The letter should also have the names and contact information of the patient’s doctors and metabolic specialists. Some people with MCAD deficiency wear a Medical alert bracelet. This bracelet carries an emblem or tag on it that explains to emergency medical personnel that the person wearing the bracelet has MCAD deficiency and that precautions and/or urgency need to be taken in delivering care.

The [link url=https://fodsupport.org/grief” target=”_blank”>FOD Family Support Group is a nonprofit organization that helps people who are affected by fatty acid oxidation disorders like medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. They offer support and counseling for parents who have lost a child to one of these disorders.

Most people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are diagnosed after a positive result from testing done at birth called newborn screening. In the past, MCAD deficiency was not often diagnosed until a baby was very sick or after they passed away from apparent sudden infant death syndrome (SIDS). Now newborn screening for MCAD deficiency happens in all states in the United States. During routine newborn screening, a tiny sample of blood is taken from the heel of a newborn. This test called a heel prick or Guthrie test involves getting a few drops of blood from a pinprick in the newborn’s heel. The blood is run through a machine that can detect high levels of a specific fat. This result is called "Elevated C8 (often also C6, C10, C10:1 and C8/C10)." Having a positive newborn screen with these high levels does not mean for sure that a baby has been diagnosed with MCAD deficiency, but doctors usually work closely with metabolic dietitians and medical geneticists as they learn more about the baby and do additional blood tests to confirm a diagnosis. These tests involve looking at the blood and urine for substances that are abnormally elevated including acylcarnitines, organic acids, and acylglycine. Genetic testing can also confirm a diagnosis. These tests involve looking for changes (mutations) in the ACADM gene known to cause the disorder.

To find a medical professional nearby who can discuss information and testing, medical geneticists can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website. A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

Most infants with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are diagnosed through routine newborn screening or NBS. NBS shows high levels of acylcarnitine in a blood sample from people with MCAD deficiency. Further testing to confirm a diagnosis will be done. This will include testing the blood and urine for substances that are abnormally elevated in people with MCAD deficiency including acylcarnitines, organic acids, and acylglycine. Sometimes, NBS can miss an infant with MCAD deficiency.

Genetic testing can be used to confirm a diagnosis of MCAD deficiency, but is often not necessary. These tests involve studying the ACADM gene for changes that cause the disorder. This can include targeted mutation analysis, where specific, known changes in a gene are looked for; single-gene testing, where the ACADM gene is studied for any changes; or, deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories.

As of May 2019, there were clinical trials involving medium-chain acyl-CoA dehydrogenase (MCAD) deficiency listed on clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials. This may not be an exhaustive list of current research.

For the most up-to-date list, contact clinical trials.gov and search for MCAD deficiency.

The main treatment for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is avoiding having children or adults with this disorder go long periods of time without eating. When the body lacks glucose, it will instead use fats for energy. The MCAD enzyme is needed to break down fats, specifically medium-chain fatty acids, for energy. These fatty acids are primarily obtained from food. Since affected people lack the MCAD enzyme, they cannot break down these fatty acids, which build up in the body. This buildup of fats inhibits or affects other chemical processes in the body.

There are guidelines that explain what doctors believe are the safe time gaps for people with MCAD deficiency. Infants require frequent feedings and they should not be given formula that contains medium-chain fatty acids. Toddlers can be given cornstarch before bed to make sure that they have enough glucose to last through the night. Some medical sources suggest that a low-fat diet (less than 30% of energy from fat) may be beneficial.

Some doctors suggest that all people with MCAD deficiency should follow a low-fat diet, or avoid a high-fat diet. But not all doctors feel that this is necessary. When people with MCAD deficiency are at risk of a metabolic episode, like during an illness or when they have not eaten for a long time, then glucose supplementation is recommended. This can be achieved through drinking orange juice or non-diet drinks. Glucose tablets can also be used.

Some people with MCAD deficiency have low carnitine levels. Carnitine is a substance made by the body that helps to carries waste from the body. People with MCAD deficiency may have more waste products and consequently may need to use more carnitine. If people with this disorder have low carnitine levels then some doctors may prescribe a carnitine supplement.

Many physicians and many emergency personnel will not be familiar with the disorder. People with MCAD deficiency should carry an emergency letter that explains MCAD deficiency and the appropriate management or treatment of a metabolic crisis. Metabolic crisis in MCAD deficiency occurs when people with the disorder do not eat for a period of time or experience higher energy demands for the body. The time gap is defined as 8 hours for infants between 6 months and 12 months of age, up to 10 hours for children age 2 and up, to 12 hours for children over 2 years of age (this applies to teenagers and adults as well). The letter should also explain the importance of preventive steps to take. The letter should also have the names and contact information of the patient’s doctors and metabolic specialists.

A patient registry is a database set up by researchers that contains information about patients with a particular disorder or group of disorders. This information helps researchers learn about a disorder, plan or study treatments, how a disorder progresses or affects people and other information. Patient registries require that patients either directly or through their doctor submit personal information. Talk to a genetic counselor about the pros or cons of participating in a patient registry. There is a patient registry for fatty oxidation disorders like medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Women with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency can have children. They need to take special precautions. During pregnancy, a woman’s carnitine levels may drop, and they may need carnitine supplementation. Carnitine is a substance made by the body that helps to carries waste from the body. People with MCAD deficiency may have more waste products and consequently may need more carnitine. Women who are pregnant should also receive glucose supplementation.

All women who have MCAD deficiency and are planning on having children should discuss a treatment plan with their physicians, their obstetricians, metabolic disease specialist, and entire medical team.

People with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency can drink alcohol, but should do so in moderation. They should avoid becoming drunk or binge-drinking, which can lead to metabolic crisis.

Some people may have changes in the ACADM gene that cause a milder form of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. These people can go their entire lives without ever developing symptoms of the disorder. However, they are at risk under specific circumstances of having a metabolic episode. There are times when people develop symptoms of MCAD deficiency for the first time as adults.

Carriers of the ACADM gene that causes medium-chain acyl-CoA dehydrogenase (MCAD) deficiency do not develop symptoms of the disorder. They are at risk of passing MCAD deficiency on to their children if their partner is also a carrier. A genetic counselor in your area can help you understand more about your risk and the testing options for carriers.

We each get two copies of most of our genes from our parents. One copy comes from our mother and the other copy comes from our father. In medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, both parents must pass along a nonworking copy of the ACADM gene. Because of this, MCAD deficiency is inherited in what is called an autosomal recessive pattern. People who have one working and one nonworking copy of the ACADM gene are called carriers. When both parents are carriers, for each individual pregnancy, there is a 25% chance that both parents will pass along a nonworking copy of the gene and the child will have the disorder. There is a 50% chance that one parent will pass on the gene change and the other will not, meaning the child will be a carrier for the disorder. Finally, there is a 25% chance that both parents will pass along a working copy of the gene and the child will not have the disorder and will not be a carrier. If you are interested in finding out if you are a carrier for MCAD deficiency, talk to your doctor about testing or contact a genetic counselor in your area. Genetic counselors can be found on the National Society of Genetic Counselors website.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is inherited in an autosomal recessive manner. This is one way a disorder or trait can be passed down through a family. Everyone has two copies of the ACADM gene; one received from their father and one from their mother. Autosomal recessive inheritance means that a person receives a nonworking copy of the ACADM gene from both parents. The parents have one working copy of the gene and one nonworking copy; they are carriers for MCAD deficiency. Carriers do not develop symptoms of the disorder. If two people who are carriers have MCAD deficiency, there is a 25% chance with each pregnancy that the child will have the disorder and a 50% chance the child will also be a carrier for the disorder. If you have a family member with MCAD deficiency and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options. Genetic counselors can be found on the National Society of Genetic Counselors website.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is caused by alterations (mutations) in the ACADM gene. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly or be overproduced.

In MCAD deficiency, an alteration in the ACADM gene leads to a deficiency of the enzyme, medium-chain acyl-CoA dehydrogenase or MCAD. This enzyme is required to break down (metabolize) fats in the body.

Normally, the body uses a sugar called glucose for energy. When people do not eat for period of time and/or experience higher energy demands the glucose in the body may be used up. When the body lacks glucose, it will instead use fats for energy. The MCAD enzyme is needed to break down fats, specifically medium-chain fatty acids, for energy. These fatty acids are primarily obtained from food. Since affected people lack the MCAD enzyme, they cannot break down these fatty acids, which build up in the body. This buildup of fats inhibits or affects other chemical processes in the body. People with MCAD deficiency will be very sleepy or sluggish during an episode because the body cannot produce the energy it needs.

Most people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are diagnosed after a positive result from newborn screening. During routine newborn screening, a tiny sample of blood is taken from the heel of a newborn. This test called a heel prick or Guthrie test involves getting a few drops of blood from a pinprick in the newborn’s heel. The blood is run through a machine that can detect high levels of acylcarnitines, a substance that abnormally builds up in people with MCAD deficiency. Sometimes, newborn screening may miss an infant with MCAD deficiency, and sometimes there may be a false positive.

Additional tests will be performed to confirm the diagnosis. These tests involve looking at the blood and urine for substances that are abnormally elevated in MCAD deficiency including acylcarnitines, organic acids, and acylglycine. Genetic testing can also confirm a diagnosis of MCAD deficiency. These tests involve looking for changes (mutations) in the ACADM gene known to cause the disorder.

If you believe your child may have MCAD deficiency, talk to your pediatrician. He or she may refer you to a medical geneticist, metabolic dietician or genetic counselor to discuss further tes. They can help decide if testing is right for you, and can order this testing if necessary. A medical geneticists can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website. A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

People with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency should have their physicians and metabolic specialists prepare an emergency letter for them. An emergency letter should explain MCAD deficiency and the appropriate management or treatment of a metabolic crisis. Metabolic crisis in MCAD deficiency occurs when people with the disorder do not eat for a period of time or have higher than normal energy demands. The time gap for not eating is defined as 8 hours for infant between 6 months and 12 months of age, up to 10 hours for children aged 2, and up to 12 hours for children (and adults) over 12 years of age.

The should also explain the importance and types of preventive steps to take, and should include the names and contact information of the patient’s doctors and metabolic specialists. The FOD Family Support Group has information about emergency protocol letters.

To learn about ongoing clinical research into medium-chain acyl-CoA dehydrogenase (MCAD) deficiency ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website. In addition, metatbolic dieticians may bw aware of current research. A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

Ongoing studies for MCAD deficiency can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. Support groups for MCAD deficiency include the FOD Family Support Group, the Organic Acidemia Association, and the United Mitochondrial Disease Foundation.

One of the best ways to find a treatment center such as a metabolic clinic or a physician with experience in treating medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is to contact a support group. The FOD Family Support Group, the Organic Acidemia Association, and the United Mitochondrial Disease Foundation are nonprofit support groups that offer support, guidance and assistance for people and families affected MCAD deficiency.

Some people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency find it challenging when it’s time to move (transition) from pediatric to adult health care services. One big change is leaving a doctor with whom you have a long-standing relationship, a doctor who is familiar with both your condition and you. It can feel like ‘starting over’ as you’ll begin to work with new doctors and a new medical team. Another challenge in moving to adult care is that young adults must take greater responsibility for their health. They must manage their disorder and manage their medications. They must bear greater responsibility for decisions concerning their health. Adolescents should be encouraged to make decisions about their care as early as possible to make this transition easier. Some hospitals have programs to help children with chronic disease transition to adult care services.

The [link url="hthttps://fodsupport.org/insurance” target=”_blank”>FOD Family Support Group also provides information on how to move or transition from pediatric care to adult care services and what to expect.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the number of new people with a disorder or newly-diagnosed. One estimate places the incidence at one in 17,000 live births in the United States. Based on the results of newborn screening in certain states the incidence ranges from one in 13,000-19,000 live births. MCAD deficiency is more common in people of northeastern European ancestry.

There are some physicians or dietitians that recommend reducing the dietary intake of fats to below that of the daily recommended level for people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. However, not all physicians agree with this and point out that there is no evidence that the buildup of dietary medium chain fatty acids is harmful.

Talk to your physician, metabolic specialist and a metabolic dietitian if you have concerns about you or your child’s diet.

Most children with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are diagnosed through newborn screening. This allows prompt treatment that prevents the signs and symptoms of the disorder. Consequently, most children with this disorder do not experience learning disabilities or problems. However, if a child is not diagnosed through newborn screening and goes undiagnosed until there is an episode of metabolic crisis, damage to the brain is possible. Since most states now screen for MCAD deficiency, many children are identified and treated before an episode of metabolic crisis happens. Although rare, some infants have a metabolic episode right after birth before newborn screening test results are finished.

People with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency can play sports. However, they should make sure they have sufficient carbohydrates to eat or drink during sports participation. This will ensure that their glucose levels do not drop and will help to avoid a metabolic crisis. Talk to your doctor and entire medical team about how to safely participate in sporting events.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency does not affect fertility. Both men and women with MCAD deficiency can have children. MCAD deficiency is an autosomal recessive disease and the risk of someone with this condition having a child with the disorder is extremely low. All children of a person with MCAD deficiency will be a carrier for the disorder, which means that they will inherit an altered copy of the ADADM gene from the affected parent.

Women who have MCAD deficiency must take special precautions when planning a pregnancy. Women with MCAD deficiency should talk to their doctor, metabolic specialist, and obstetrician to develop a plan for their pregnancy. Families affected by this disorder should consult with a genetic counselor about the genetic implications of MCAD deficiency. Genetic counselors can be found on the National Society of Genetic Counselors website.

Some parents may choose to have their child tested for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency before they are born. This is known as prenatal diagnosis. If the gene change(s) that causes MCAD deficiency are known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. A sample of tissue can be taken from the placenta to test for changes in the ACADM gene. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied for changes in the ACADM gene.

Making a diagnosis of MCAD deficiency before birth is also possible through an enzyme assay on placental tissue or amniocytes. An assay is a test that measures the activity of an enzyme; in this instance the activity of the MCAD enzyme.

There are risks to the unborn baby of doing these tests before birth and with disorders like MCAD deficiency, which do not affect intelligence, such testing is not commonly done. Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis. Genetic counselors can be found on the National Society of Genetic Counselors website.

If you are being treated for medium-chain acyl-coa dehydrogenase deficiency (MCAD), your doctor may recommend you take carnitine. Although there is a version of this supplement that you can buy at health food supplement stores, the carnitine there has not undergone the amount of rigorous testing and regulations that the prescription versions (Carnitor® and levocarnitine) have. In fact, some supplements bought from the health food store are not manufactured in the United States. Since you do not know for sure the quality of the product, it is recommended you discuss use of this supplement from the health food store with your doctor. The safest alternative is a medication that has been approved and is regulated by the Food and Drug Administration to treat MCAD.

With prompt diagnosis and treatment, children with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency can avoid the symptoms associated with this disorder and experience normal development. Their life expectancy will most likely be no different from someone without the disorder.

Most people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are diagnosed through newborn screening. Treatment is begun before symptoms develop and most people can avoid severe complications. In children who are diagnosed late or are not treated, a metabolic crisis episode can cause neurological problems. How these children perform in school depends on many factors including the degree of intellectual disability and how severe a form of the disorder they may have.

All children with MCAD deficiency (even if they do not have any complications from the disorder) are eligible for a 504 plan. A 504 plan organizes any unique requests needed by a child to fully participate in school. This plan is important for making sure a student with MCAD can maintain their diet in school while fully participating in school with the same access to educational opportunities as all children. For example, children with MCAD deficiency need to avoid going long periods of time without eating.

An individualized education plan (IEP) is a 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children.

Parents should talk to their child’s school system and learn what they need to do for their children.

Parents are encouraged to provide a school with a packet of information on MCAD deficiency and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals. The FOD Family Support Group has information about how to handle school when your child has MCAD deficiency.

The U.S. Department of Education has information on individual education plans and on 504 plans. Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

Sometimes, there are different names for the same disorder. There are a few different ways doctors may refer to medium-chain acyl-CoA dehydrogenase (MCAD) deficiency including:

Support groups are organizations that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. Support groups for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency include the FOD Family Support Group. This organization represents all fatty oxidation disorders.

The Organic Acidemia Association, and the United Mitochondrial Disease Foundation are umbrella organizations. They represent many different metabolic disorders including MCAD deficiency and the other fatty oxidation disorders.

As the use of newborn screening has expanded, infants have been identified that have milder forms of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Many of these individuals may never have an episode of metabolic crisis because they have higher levels of the MCAD enzyme than people with the more severe forms of MCAD deficiency. However, some doctors feel that these people are at risk under certain circumstances of having a metabolic episode, and there are times when people have symptoms of MCAD deficiency for the first time as adults. People with the "mild" forms of MCAD deficiency should receive the same counseling and precautions as people with the severe forms.

Infant formulas containing medium-chain triglycerides (a type of fat) should be avoided. Some doctors recommend that children and adults with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency should avoid having too much saturated and trans fats in their diets. Some doctors recommend a diet high in carbohydrates, but people with MCAD deficiency should avoid eating too many simple carbohydrates, which can contribute to excessive weight gain and obesity. There are some physicians or dietitians that recommend reducing the dietary intake of fats to below that of the daily recommended level. However, not all physicians agree with this and point out that there is no evidence that the buildup of dietary medium chain fatty acids is harmful. A metabolic dietitian is extremely helpful for people or parents of children with MCAD deficiency in developing a healthy diet. A metabolic dietician can be found through the Genetic Metabolic Dieticians International webpage.

Artificial sweeteners should be avoided because they do not offer any glucose or calories. People with MCAD deficiency should avoid becoming drunk or binge-drinking, which can lead to metabolic crisis. They should avoid drugs and other substances for the same reasons.