Acyl-coa dehydrogenase, medium-chain, deficiency of

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What is an emergency protocol letter for MCAD?

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.

References
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
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How do I get an emergency protocol letter for MCAD?

What do I do if I think my child with MCAD is sick and not eating well?

What do I do if I or my child with MCAD needs surgery?

Are there any things that people with MCAD should avoid?

Do people with MCAD have disability or learning problems?

What are some of the common situations in which a child with MCAD may get symptoms?

Can a child with MCAD grow up and live a healthy and productive life?

What does a positive newborn screening mean for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency?

Can people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency have children?

Are there school specific accommodations my child with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency may need?

I am a carrier of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, will I develop symptoms?

How do children with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency go from pediatric care to adult care?

Do people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency have to follow a special diet?

Will my child outgrow medium-chain acyl-CoA dehydrogenase (MCAD) deficiency?

Is there a patient registry for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency?

Is it safe for women with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency to become pregnant?

Is it safe for people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency to drink alcohol?

Can people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency play sports?

Should I wear a medical alert bracelet if I have medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Can I buy carnitine supplements at the health food store to treat MCAD?

How do I get an emergency protocol letter for MCAD?

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.

References
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
What do I do if I think my child with MCAD is sick and not eating well?

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.

References
  • Frazier DM. Genetic Metabolic Dietitians International website. http://www.gmdi.org/Resources/Nutrition-Guidelines/MCAD
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
  • If My Child is Sick. The FOD Family Support Group website. http://www.fodsupport.org/child.htm
What do I do if I or my child with MCAD needs surgery?

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.

References
  • Frazier DM. Genetic Metabolic Dietitians International website. http://www.gmdi.org/Resources/Nutrition-Guidelines/MCAD
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
Are there any things that people with MCAD should avoid?

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.

References
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
  • Frazier DM. Genetic Metabolic Dietitians International website. http://www.gmdi.org/Resources/Nutrition-Guidelines/MCAD
  • FAQ. The FOD Family Support Group website. http://www.fodsupport.org/faq.htm
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
Do people with MCAD have disability or learning problems?

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.

References
  • Medium Chain Acyl CoA Dehydrogenase Deficiency. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
  • Medium chain acyl-CoA dehydrogenase deficiency. OrphaNet website. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3570
What are some of the common situations in which a child with MCAD may get symptoms?

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

  • After eight hours in infants between ages six and 12 months
  • After ten hours during the second year of life
  • After 12 hours after age two years

This does not mean if a child over 2 years of age does not eat for 8 hours that they will definitely, or immediately, have a metabolic crisis, but that doctors have identified these times as when the risk begins. Reasons a child may not eat include illness or prepping for surgery. Children participating in sports need to have proper intake of fluids because the exertion combined with not eating can cause an episode.

Talk to your physician, metabolic specialists, and entire medical team to understand what situations can bring about a metabolic crisis in children with MCAD deficiency, and the steps to take to avoid a crisis or properly deal with a crisis if it happens.

References
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
Can a child with MCAD grow up and live a healthy and productive life?

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.

References
  • Medium chain acyl-CoA dehydrogenase deficiency. OrphaNet website. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3570
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
What does a positive newborn screening mean for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency?

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.

References
  • Newborn Screening ACT Sheet: Elevated C8 with Lesser Elevations of C6 and C10 Acylcarnitine (Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency. American College of Medical Genetics website. http://www.acmg.net/StaticContent/ACT/C8_C6_C10.pdf
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency. Baby's First Test website. http://www.babysfirsttest.org/newborn-screening/conditions/medium-chain-acyl-coa-dehydrogenase-deficiency
Can people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency have children?

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.

References
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
Are there school specific accommodations my child with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency may need?

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.

References
  • US Department of Education website
  • Educational Info. The FOD Family Support Group website. http://www.fodsupport.org/educational.htm
I am a carrier of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, will I develop symptoms?

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.

References
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
  • Roe CR. MCAD: Medium Chain acyl CoA Dehydrogenase - Information for Families. The FOD Family Support Group website. http://www.fodsupport.org/mcad-fam.htm
How do children with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency go from pediatric care to adult care?

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 FOD Family Support Group also provides information on how to move or transition from pediatric care to adult care services and what to expect.

References
  • Transition to Adult Care. New England Consortium of Metabolic Programs website. http://newenglandconsortium.org/for-professionals/transition-to-adult-care/
  • Tips for the Transition to Adult Healthcare. The FOD Family Support Group website. https://fodsupport.org/documents/ready-transition-to-adult-healthcare-ages-18-21.pdf
Do people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency have to follow a special diet?

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.

References
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
  • Frazier DM. Genetic Metabolic Dietitians International website. http://www.gmdi.org/Resources/Nutrition-Guidelines/MCAD
Will my child outgrow medium-chain acyl-CoA dehydrogenase (MCAD) deficiency?

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.

References
  • Medium chain acyl-CoA dehydrogenase deficiency. OrphaNet website. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3570
  • Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency" Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency
Is there a patient registry for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency?

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.

References
  • The FOD Registry website
  • Patient Registries. National Center for Advancing Translational Science website. https://ncats.nih.gov/clinical/registries
Is it safe for women with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency to become pregnant?

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.

References
  • Frazier DM. Genetic Metabolic Dietitians International website. http://www.gmdi.org/Resources/Nutrition-Guidelines/MCAD
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
Is it safe for people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency to drink alcohol?

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.

References
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
  • Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews website. https://www.ncbi.nlm.nih.gov/books/NBK1424/#mcad
Can people with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency play sports?

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.

References
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
Should I wear a medical alert bracelet if I have medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

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.

References
  • Tips for the Transition to Adult Healthcare. The FOD Family Support Group website. https://fodsupport.org/documents/ready-transition-to-adult-healthcare-ages-18-21.pdf
  • Gartner V, McGuire PJ, Lee PR. Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency. Neurology. 2015;85(4):e37-e40.
Can I buy carnitine supplements at the health food store to treat MCAD?

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.

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