FATTY ACID DISORDER
Disorder Name: Medium chain acyl-CoA dehydrogenase deficiency
- What is MCADD?
- What causes MCADD?
- If MCADD is not treated, what problems occur?
- What is the treatment for MCADD?
- What happens when MCADD is treated?
- What causes the MCAD enzyme to be absent or not working correctly?
- How is MCADD inherited?
- Is genetic testing available?
- What other testing is available?
- Can you test during a future pregnancy?
- Can other members of the family have MCADD or be carriers?
- Can other family members be tested?
- How many people have MCADD?
- Does MCADD happen more often in a certain ethnic group?
- Does MCADD go by any other names?
- Where can I find more information?
This fact sheet contains general information about MCADD. Every child is different and some of this information may not apply to your child specifically. Certain treatments may be recommended for some children but not others. Children with MCADD should be followed by a metabolic doctor in addition to their primary doctor.
WHAT IS MCADD?
MCADD stands for “medium chain acyl-CoA dehydrogenase deficiency.” It is one type of This is the process used by the body to change fatty acids, the building blocks of fat, into energy. It happens in the mitochondria – the small energy-producing parts found in each cell of the body. disorder. People with MCADD have problems breaking down fat into energy for the body.
|Fatty Acid Oxidation Disorders:
This is a group of rare inherited conditions. FAODs are caused by missing or non-working enzymes. Normally, many enzymes are used by the body to break down fat into energy. In people with FAODs, one of these enzymes is not working and fat cannot be used for energy. If these conditions are not treated, they can lead to serious health problems. are a group of rare Acquiring a trait from one’s parents. Most traits, such as eye color or hair color, are inherited from a parent through genes. conditions. They are caused by enzymes that do not work properly.
A number of A molecule that helps chemical reactions take place. For example, enzymes in the stomach speed up the process of breaking down food. Each enzyme can participate in many chemical reactions without changing or being used up. are needed to break down fats in the body (a process called fatty acid oxidation). Problems with any of these enzymes can cause a fatty acid oxidation disorder. People with FAODs cannot properly break down Fat is one of the three main nutrients in food (carbohydrates, fat, protein). Some foods that contain fat are butter, margarine, oils, nuts, meats, poultry, fish and some dairy products. Extra calories from food are stored as body fat. Stored body fat provides the body with a reserve supply of energy. from either the food they eat or from fat stored in their bodies.
The symptoms and treatment vary between different FAODs. They can also vary from person to person with the same FAOD. See the fact sheets for each specific FAOD.
FAODs are inherited in an autosomal recessive manner and affect both males and females.
WHAT CAUSES MCADD?
MCADD occurs when an enzyme called “medium chain acyl-CoA dehydrogenase” (MCAD), is either missing or not working properly. This enzyme’s job is to break down certain fats in the food we eat into energy. It also breaks down fat already stored in the body.
Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called This is a type of sugar made from the carbohydrates in food. Glucose is found in the blood. It is the main source of energy for the body and brain.. Our bodies rely on fat when we don’t eat for a stretch of time – like when we miss a meal or when we sleep.
When the MCADD enzyme is missing or not working well, the body cannot use certain types of fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called This happens when there is too little sugar (glucose) in the blood. It may cause a person to feel nervous, shaky, weak, or sweaty. It may also cause headache, blurred vision, and hunger. If left untreated, it can cause unconsciousness (coma) and sometimes even death., and to the build up of harmful substances in the blood.
IF MCADD IS NOT TREATED, WHAT PROBLEMS OCCUR?
MCADD can cause bouts of illness called metabolic crises. Children with MCADD often show effects for the first time between three months and three years of age. Some of the first symptoms of a This is a serious health condition caused by low blood sugar and the build-up of toxic substances in the blood. Symptoms of a metabolic crisis are poor appetite, nausea, vomiting, diarrhea, extreme sleepiness, irritable mood and behavior changes. If not treated, breathing problems, seizures, coma, and sometimes even death can occur.Metabolic crises happen more often in people with certain metabolic disorders (some fatty acid oxidation disorders, amino acid disorders, and organic acid disorders). They are often triggered by things like illness or infection, going without food for a long time, and, in some cases, heavy exercise. are:
- extreme sleepiness
- behavior changes
- irritable mood
- poor appetite
Some of these other symptoms may also follow:
If a metabolic crisis is not treated, a child with MCADD can develop:
- breathing problems
- These are also called "convulsions" or "fits." During a seizure, a person loses consciousness and control of his or her muscles. It may also cause involuntary movements. Seizures can happen for many reasons. Some causes are metabolic disorders, a metabolic crisis, brain injury, and infection.
- This is a sleep-like condition from which a person cannot be awakened. People in a coma are unconscious. A coma can be caused by many things. Two causes are untreated low blood sugar (hypoglycemia) and a metabolic crisis., sometimes leading to death
Between episodes of metabolic crisis, people with MCADD are usually healthy. However, repeated episodes can cause permanent brain damage. This may result in learning problems, intellectual disabilities, or This is rigidity of the muscles and increased reflexes. It is caused by increased muscle tone. It results in abnormal tightness or stiffness of the muscles and joints..
Symptoms often happen after having nothing to eat for more than a few hours.
Hypoglycemia can occur, with or without other symptoms of metabolic crisis, just by going too long without food. Hypoglycemia can cause a person to feel weak, shaky, or dizzy, and to have clammy, cold skin. If not treated, hypoglycemia can lead to a coma and even death.
Hypoglycemia and metabolic crises are also more likely to occur when a person with MCADD gets sick or has an infection.
Some children with MCADD have very mild symptoms or no symptoms at all.
WHAT IS THE TREATMENT FOR MCADD?
Your baby’s primary doctor will work with a This is a doctor or medical geneticist who has special training in diagnosing and treating metabolic disorders. They often work in university hospitals or large medical centers. to care for your child. Your doctor may also suggest that you meet with a dietician familiar with MCADD.
Certain treatments may be advised for some children but not others. When necessary, treatment is usually needed throughout life. The following are treatments often recommended for children with MCADD:
1. Avoid going a long time without food
Infants and young children with MCADD need to eat frequently to prevent hypoglycemia or a metabolic crisis. Your metabolic doctor will tell you how often your child needs to be fed. In general, it is often suggested that infants be fed every four to six hours. Some babies need to eat even more frequently than this. It is important that infants be fed during the night. They may need to be woken up to eat if they do not wake up on their own. Your metabolic doctor and This is a person with special training in food and nutrition. A registered dietician (RD) has met the necessary educational requirements and has passed a national examination. If your child has a metabolic disorder, it is important for you to work with a registered dietician. They help create healthy food plans for people with metabolic disorders or other special needs. will give you an appropriate feeding plan for your infant. Your doctor will also give you a ‘sick day’ plan, tailored to your child’s needs, for you to follow during illnesses or other times when your child will not eat.
Your metabolic doctor will continue to advise you on how often your child should eat as he or she gets older. When they are well, many teens and adults with MCADD can go without food for up to 12 hours without problems. Most children do not have metabolic crises past the age of ten. However, some may need to continue treatment throughout life.
Sometimes a diet that is low in fat and high in carbohydrates is recommended. This is one of the three types of nutrients in food (carbohydrates, fats, proteins). Sugars and starches are the most important types of carbohydrates. They are broken down by the body into glucose, the main source of energy for the body. Carbohydrates are found in foods such as: bread, cereal, pasta, grains, fruits and vegetables. Milk and dairy products, fruit drinks, sugar, candy, and sweet desserts also contain carbohydrates. give the body many types of sugar that can be used as energy. In fact, for children needing this treatment, most foods in the diet should be carbohydrates (bread, pasta, fruit, vegetables, etc.) and protein (lean meat and low-fat dairy foods). Your dietician can create a food plan with the correct type and amount of fat your child needs. Any diet changes should be made under the guidance of an experienced dietician.
Ask your doctor whether or not your child needs to have any changes in his or her diet.
Some children may be helped by taking This is a natural substance found in muscle cells. It helps the body make energy from the fat in food and the fat stored in the body. It also helps the cells get rid of harmful wastes made during the breakdown of fat. Carnitine supplements may be used as a treatment for some metabolic disorders.. This is a safe and natural substance that helps body The smallest living unit. Cells make up all organs and tissues in multi-cellular organisms, like humans. They can also live independently, as in bacteria and other microorganisms. At a minimum, a cell is surrounded by a membrane, contains DNA at some stage in its life, and is able to replicate itself into two equal parts. make energy. It also helps the body get rid of harmful wastes.
Your doctor will decide whether or not your child needs L-carnitine. Unless you are advised otherwise, use only L-carnitine prescribed by your doctor. Do not use any medications without checking with your doctor.
4. Call your doctor at the start of any illness
Always call your health care provider when your child has any of the following:
- poor appetite
- low energy or excessive sleepiness
- an infection
- a fever
Children with MCADD need to eat extra starchy food and drink more fluids during any illness – even if they may not feel hungry – or they could develop hypoglycemia or a metabolic crisis. Children who are sick often don’t want to eat. If they won’t or can’t eat, they may need to be treated in the hospital to prevent problems.
Ask your metabolic doctor if you should carry a special travel letter with medical instructions for your child’s care.
WHAT HAPPENS WHEN MCADD IS TREATED?
With prompt and careful treatment, children with MCADD usually live healthy lives with typical growth and development. The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may have life-long learning disabilities, spasticity, Any condition that lasts for a long period of time or occurs frequently. For example, diabetes and hemochromatosis are both chronic conditions. muscle weakness, or other effects.
WHAT CAUSES THE MCAD ENZYME TO BE ABSENT OR NOT WORKING CORRECTLY?
Genes tell the body to make various enzymes. The ACADM gene instructs the body to make the medium chain acyl-CoA dehydrogenase (MCAD) enzyme. Everyone has two copies of the ACADM gene. People with MCADD have changes, also called A variant is a change or alteration in a person’s DNA sequence. Variants can happen in genes and affect how the gene functions. There are different types of variants – they can be non-problem causing (benign), disease-causing (pathogenic) or of unknown significance. The term variants is now used in place of the term mutation. in both copies of their ACADM A segment of DNA that contains the instructions to make a specific protein (or part of a protein). Genes are contained on chromosomes. Chromosomes, and the genes on those chromosomes, are passed on from parent to child. Errors in the DNA that make up a gene are called variants and can lead to diseases. that cause them to not work correctly. Because of the variants in the ACADM genes, the MCAD enzyme either does not work properly or is not made at all.
HOW IS MCADD INHERITED?
MCADD is inherited in an autosomal recessive manner. It affects both boys and girls equally.
Everyone has two copies of the ACADM gene that make the MCAD enzyme. In children with MCADD, neither of these genes works correctly. These children inherit one non-working ACADM gene from each parent.
Parents of children with MCADD rarely have the disorder. Instead, each parent has a single non-working ACADM gene. They are called A person who has one copy of a gene mutation for a particular autosomal recessive disorder (remember genes come in pairs). Carriers are not affected by the disorder. However, they can pass on the gene variant to their children. Children who inherit two such gene variants will be affected by the disorder. The term variants is now used in place of the term mutation.. Carriers do not have MCADD because their other ACADM gene is working correctly.
When both parents are carriers, there is a 25% chance in each pregnancy for the child to have MCADD. There is a 50% chance for the child to be a carrier, just like the parents. And, there is a 25% chance for the child to have two working genes.
Relating to (or due to) genes and heredity or the field of studying genes and heredity. counseling is available to families who have children with MCAD. Genetic counselors can answer your questions about how MCADD is inherited, choices during future pregnancies, and how to test other family members. Ask your doctor about a referral to a These are health care providers who have special training in genetic conditions. They help families understand genetic disorders and how they are passed down. Genetic counselors offer information and support to people who have genetic conditions in their families or are concerned that they may have a child with an inherited disorder..
IS GENETIC TESTING AVAILABLE?
Genetic testing for MCADD can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in both copies of the ACADM genes. In many children with MCADD, both gene changes can be found. However, in other children, only one or neither of the two gene changes can be found, even though we know they are present.
Deoxyribonucleic acid (DNA) is a molecule found in the chromosomes that carries genetic information. DNA is composed of four units (called bases) that are designated A, T, G, and C. The sequence of the bases spell out instructions for making all of the proteins needed by an organism. A gene is a section of DNA that holds the instructions for a specific protein. A change in one or more of the DNA bases making up a gene is called a mutation. Some mutations change the protein instructions and can lead to particular health problems or disorders. Each parent passes half of their chromosomes, and thus half of their DNA instructions, onto their children. It is these instructions that cause certain traits, such as eye or hair color, to be inherited. testing is not necessary to diagnose your child. It can be helpful for carrier testing or prenatal diagnosis, discussed below.
WHAT OTHER TESTING IS AVAILABLE?
MCADD can also be confirmed either by a blood test called an Our bodies break down the fat that we eat into substances called fatty acids. Fatty acids are then broken down even further into substances called acylcarnitines. Acylcarnitines are used to create energy for the body. profile or an enzyme test on a skin sample. Talk to your doctor or your genetic counselor if you have questions about testing for MCADD.
CAN YOU TEST DURING A FUTURE PREGNANCY?
If both gene changes have been found in your child with MCADD, DNA testing can be done during future pregnancies. The sample needed for this test is obtained by either CVS or This is a test done during pregnancy. A needle is used to remove a small sample of fluid from the sac around the fetus. The sample can be used to test for certain genetic disorders in the fetus. Amniocentesis to test for genetic conditions is usually done between 13 and 20 weeks of pregnancy..
If DNA testing would not be helpful, an enzyme test can be done during pregnancy on cells from the fetus. Again, the sample needed for this test is obtained by either This is a special test done early in pregnancy. During CVS, a small sample of the placenta is removed for testing. This sample can be used to test for certain genetic disorders in the fetus. CVS is usually done between 10 and 12 weeks of pregnancy. or amniocentesis.
Parents may either choose to have testing during pregnancy or wait until birth to have the baby tested. Parents may also choose to use assisted reproductive techniques to decrease the chance that their future children would have MCADD. A genetic counselor can talk to you about your choices and answer questions about prenatal testing or testing your baby after birth.
CAN OTHER MEMBERS OF THE FAMILY HAVE MCADD OR BE CARRIERS?
The brothers and sisters of a baby with MCADD have a chance of being affected, even if they have had no symptoms. Finding out whether other children in the family have MCADD is important because early treatment may prevent serious health problems. Talk to your doctor or genetic counselor about testing your other children for MCADD.
Brothers and sisters who do not have MCADD still have a chance to be carriers like their parents. Except in special cases, carrier testing should only be done on people over 18 years of age.
If you are a parent of a child with MCADD, your brothers and sisters have a 50% chance to be an MCADD carrier. It is important for other family members to be told that they could be carriers. There is a small chance they are also at risk to have children with MCADD.
All states offer A screening test that looks for different disorders using a small sample of blood taken from a newborn’s heel. A positive or abnormal newborn screening result means that there are slight differences that were found in the baby’s blood, and further testing is needed to figure out if the baby has a metabolic disorder. for MCADD. However, when both parents are carriers, newborn The process of testing for disease in a person who does not show signs of having the disease (nonsymptomatic or asymptomatic person). The goal of screening is to catch the disease in its early stages. results are not sufficient to rule out MCADD in a newborn baby. In this case, special diagnostic testing should be done in addition to newborn screening.
During pregnancy, women carrying fetuses with MCADD may be at increased risk to develop serious medical problems. Some women carrying fetuses with Fatty Acid Oxidation Disorders have developed:
- excessive vomiting
- abdominal pain
- high blood pressure
- This is a yellow color to the skin and whites of the eyes. It is often a sign of liver damage.
- abnormal fat storage in the liver
- severe bleeding
All women with a family history of MCADD should share this information with their obstetricians and other health care providers before and during any future pregnancies. Knowing about these risks allows better medical care and early treatment if needed.
CAN OTHER FAMILY MEMBERS BE TESTED?
Brothers and sisters can be tested for MCADD using DNA testing or other special tests.
If both gene changes have been found in your child with MCADD, other family members can have DNA testing to see if they are carriers.
If DNA testing would not be helpful, carrier testing can also be done by an enzyme test on a skin sample.
HOW MANY PEOPLE HAVE MCADD?
About one in every 15,000 babies in the United States is born with MCADD.
DOES MCADD HAPPEN MORE OFTEN IN A CERTAIN ETHNIC GROUP?
MCADD happens more often in white people from Northern Europe and the United States. About 1 in every 70 Caucasians is a carrier for MCADD.
DOES MCADD GO BY ANY OTHER NAMES?
MCADD is also sometimes called:
- MCAD deficiency
- ACADM deficiency
- MCADH deficiency
WHERE CAN I FIND MORE INFORMATION?
Fatty Oxidation Disorders (FOD) Family Support Group
Organic Acidemia Association
United Mitochondrial Disease Foundation
Metabolic Support UK
Baby’s First Test
Genetic Metabolic Dietitians International
Genetics Home Reference
|Reviewed by:||HI, CA, OR, and WA metabolic specialists|
|Review date:||April 29, 2020
February 28, 2016
July 13, 2013
April 2, 2011
September 31, 2007
|Update on:||April 29, 2020|
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