Description

Medium-chain acyl-coenzyme a dehydrogenase (MCAD) deficiency is an inherited disorder that prevents your body from breaking down certain fats and convert it into energy. Its metabolism involves the processes your body uses to produce energy. The deficiency MCAD can cause problems with your metabolism.

If left untreated, the deficiency MCAD can lead to a severe lack of energy and fatigue, liver disease, coma, and other serious health problems. In addition, the level of blood sugar can drop dangerously low, a condition called hypoglycemia. The prevention and early treatment are essential regardless of your level of sugar in the blood. If you have a deficiency MCAD, a sudden episode, called a crisis metabolic, can be caused by common diseases, high fever, stomach problems, or go a long time without eating, known as the prolonged fasting.

The deficiency of MCAD is present from birth and is a condition for life. In the united States, all the states of the test for the deficiency of MCAD at birth as part of newborn screening. Many other countries also offer routine newborn screening for deficiency MCAD. If the deficiency MCAD is diagnosed and treated early, the disease can be well managed through diet and lifestyle.

Symptoms

The deficiency of MCAD is generally identified for the first time in the infants and young children. In rare cases, the disorder is not diagnosed until adulthood.

Symptoms can vary between people with deficiency of MCAD. They may include:

  • Vomiting.
  • Low or no energy.
  • Feeling of weakness.
  • Low blood sugar.

A sudden episode, called a crisis metabolic, may be due to:

  • Spend a lot of time without eating.
  • Missing meals.
  • Common infections.
  • High fever.
  • Course of stomach and digestive problems that can cause vomiting and diarrhea.
  • The intense exercise.

When to see a doctor

In the united States and many other countries, newborn screening programs test for the deficiency MCAD. After your initial evaluation, you may be referred to a specialist in the evaluation and treatment of the deficiency MCAD. It can also be referred to other health care team members, as a registered dietitian.

Contact your health care team if you have been diagnosed with the deficiency of MCAD and have a high fever, lack of appetite, stomach or digestive symptoms, or a planned medical procedure that requires fasting.

Causes

When you do not have enough of the MCAD enzyme in your body, certain fats called medium-chain fatty acids cannot be broken down and converted into energy. This leads to low energy and low sugar in the blood. In addition, the fatty acids can accumulate in the tissues of the body and cause damage.

The deficiency of MCAD is caused by a change in the ACADM gene. The condition is inherited from both parents in an autosomal recessive pattern. This means that both parents are carriers, each one has a mutated gene and an unchanged gene — but who have no symptoms of the disease. The child with deficiency MCAD inherits two copies of the mutated gene — one from each parent.

If you inherit only one gene is altered, you will not develop deficiency MCAD. With an altered gene, you are a carrier and can pass on the mutation to their children. But not to develop the condition, unless that is also inherited an altered gene from the other parent.

Risk factors

A child is at risk of deficiency MCAD if both parents are carriers of a gene that is known to be the cause. The child inherits two copies of the gene — one from each parent. Children who inherit only one copy of the defective gene from one of the parents usually do not develop deficiency MCAD, but will be carriers of the gene.

Complications

If a metabolic crisis caused by the deficiency of MCAD is left without treatment, it can lead to:

  • Seizures.
  • Liver problems.
  • The brain damage.
  • State of Coma.
  • The sudden death.

Diagnosis

The deficiency of MCAD is diagnosed by neonatal screening, followed by genetic testing.

  • Assessment of the newborn. Many countries, including all states in the united States, the display of the deficiency of MCAD at birth. Using a heel prick, a couple of drops of your baby's blood is taken and analyzed. If the detection levels are outside of the standard range, additional tests can be performed.
  • The genetic testing. Genetic testing can reveal the mutated gene that causes a deficiency of MCAD. Depending on the type of test, a sample of blood or saliva, or of the cells from the inside of the cheek, the skin or other tissue is collected and sent to a lab to be tested. Your doctor may also recommend tests of family members for this gene. Genetic counseling can help you understand the testing process and what the results mean.

A specialist in metabolism, and, often, a registered dietitian, are usually included in their diagnosis and treatment. Laboratory tests can be done to help identify problems with the metabolism processes in your body uses to produce energy. The results may help to treat or prevent complications.

Treatment

Assessment of the newborn at birth allows the deficiency MCAD to be diagnosed and treated early, before symptoms, prevent complications. Once identified, the disorder can be managed through diet and lifestyle.

The main goal of the treatment of deficiency MCAD is to prevent problems caused by their metabolism, which can lead to low blood sugar. To keep the blood sugar levels and avoid hypoglycemia:

  • Infants require frequent feeding that include getting enough calories from complex carbohydrates.
  • Children and adults need to obtain the sufficient amount of complex carbohydrates on a regular schedule of meals and snacks.

Your health care team may recommend additional treatment options.

Work with your health care team, including a registered dietitian, to develop a treatment plan tailored to your energy needs. This includes the planning of the extra complex carbohydrates needed during illness, stress or increased activity.

Limit of fasting

The length of time that it is safe for the fasting — going without eating — it may vary with the age and the health care teamꞌs recommendations. For example, during the first 4 months of life, infants' time of fasting can be more than two to three hours. Fasting time can be increased gradually up to 12 hours for up to 1 year of age. Children and adults should not fast for more than 12 hours.

Preventing hypoglycemia

Recommendations to prevent low blood sugar is called hypoglycemia usually include:

  • Avoid fasting longer than recommended by your health care team.
  • Eat regular meals and snacks with enough calories from complex carbohydrates, such as wholemeal bread, rice, pasta and cereals, for the energy needs.
  • Choose foods that are high in complex carbohydrates and low in fat.
  • Increase calories for the extra consumption of complex carbohydrates during illness, stress, or the increase of the activity and before you go to sleep.
  • Limit the consumption of alcohol.

The treatment of hypoglycemia

Talk with your health care provider about what to do if symptoms of low sugar in the blood develop, with the order that you have an emergency plan. Strategies may include:

  • Take simple carbohydrates, such as sugar (glucose) in tablets or sugar-sweetened beverages, such as juice, which are not labeled "diet".
  • Seek emergency medical attention if you may not eat, or if you have diarrhea or vomiting. An intravenous line (IV) for the extra glucose, and additional treatment may be needed.

Lifestyle and home remedies

The parents and the family's understanding of the condition is critical to the continuum of care and prevention of low blood sugar episodes and other complications. Prevention tips include:

  • Avoid skipping meals.
  • Eat complex carbohydrates before extra activity or exercise.
  • Eat complex carbohydrates before you go to bed.
  • Increase the calories with extra complex carbohydrates during illness or stress.
  • Always carry complex carbohydrate snacks.
  • Always carry a source of simple carbohydrates to treat low levels of sugar in the blood.
  • Know the warning signs of low blood sugar, and other symptoms of a crisis metabolic.

If you or your child have a deficiency MCAD, wear a medical alert bracelet or necklace and carry a medical card. This allows the health care providers of their condition, even in case of an emergency. Ask your health care provider about the information for health professionals that you can carry with you in case you need emergency care.

Coping and support

The care of a child or family member with a life-long disorder, such as a deficiency MCAD can be a challenge. Consider the following strategies:

  • Learn about the disorder. Learn all you can about the deficiency of MCAD. Then you can make the best decisions and to be an advocate for you or your child. Help your child, family members, caregivers, teachers, and friends to understand the disease, the necessary care and the consequences of not following the instructions of the diet.
  • To find a team of trusted professionals. You will have to make important decisions every day about the attention. Medical centers with the expertise of the teams can offer information on the disorder, as well as nutritional advice and support, and can help you manage your care.
  • Search for other families. Talking with people who are dealing with similar issues can provide information and emotional support. Ask your doctor about support groups in your community. If a group is not for you, maybe your provider can put you in touch with a family who has dealt with the disorder. Or you may be able to find an individual or support group online.
  • Ask for help from family and friends. To ask for or accept help from family and friends in the care of your loved one when needed. Take the time for their own interests and activities. Counseling with a mental health professional can help with the adjustment and coping for you or your child.
Symptoms and treatment of the deficiency MCAD