Mcad Deficiency

MCAD deficiency is a genetic condition that makes it hard for the body to use certain fats for energy. Your body's metabolism is like a factory that produces energy. MCAD deficiency disrupts this process.

Without treatment, this can lead to extreme tiredness and weakness, liver problems, loss of consciousness (coma), and other serious health issues. It can also cause dangerously low blood sugar (hypoglycemia). It's crucial to get treatment right away, no matter how high or low the blood sugar is. Someone with MCAD deficiency can have a sudden, serious episode (a "metabolic crisis") triggered by common illnesses like colds, high fevers, stomach problems, or skipping meals for a long time.

MCAD deficiency is a condition you're born with and will have for your entire life. In the US, all newborns are screened for MCAD deficiency as part of routine newborn tests. Many other countries do the same. If found early and treated properly, MCAD deficiency can be managed well with a special diet and lifestyle adjustments.

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency is a condition often discovered in babies and young children, though sometimes it isn't diagnosed until adulthood. People with MCAD deficiency can experience a range of symptoms. These might include feeling sick to your stomach (vomiting), having little or no energy, feeling weak, and having low blood sugar.

A serious episode, called a metabolic crisis, can happen suddenly. This can be triggered by:

• Skipping meals or going too long without eating: Your body needs fuel to function, and if it doesn't get enough, this can cause a problem.
• Illnesses like infections or fevers: Your body works harder to fight off an illness, using up more energy.
• High fevers: High fevers can increase the body's energy demands.
• Stomach and digestive problems: These issues can lead to vomiting and diarrhea, further depleting the body's energy stores.
• Intense exercise: Physical activity can use up a lot of energy.

Many countries, including the United States, have newborn screening programs to check for MCAD deficiency. If your child is diagnosed with MCAD deficiency, you will likely be referred to a specialist who is experienced in treating the condition. You may also be referred to other healthcare professionals, such as a registered dietitian, who can provide specialized support.

If you or your child has been diagnosed with MCAD deficiency, it's crucial to contact your healthcare team if you experience a high fever, loss of appetite, stomach or digestive problems, or if you have a planned medical procedure that involves fasting. This allows your healthcare team to monitor your condition and take steps to prevent complications.

Many countries, including the US, routinely check newborns for a condition called MCAD deficiency. This initial screening is just the first step. If a newborn tests positive, they will likely be referred to a doctor who specializes in diagnosing and treating MCAD deficiency. They might also see other healthcare professionals, like a registered dietitian. A dietitian can help with meal planning and nutrition.

If you or your child has been diagnosed with MCAD deficiency, it's important to contact your healthcare team if you experience a high fever, loss of appetite, or any stomach or digestive problems. This is also important if you have a medical procedure planned that involves fasting. Talking to your team is crucial for managing the condition and ensuring your health and well-being.

Autosomal recessive disorders happen when a person inherits two faulty versions of a gene, sometimes called mutations. They get one faulty gene from each parent. Importantly, having just one faulty gene usually doesn't cause problems for the parent.

Imagine two people who both carry one faulty gene. They're called carriers. There's a 25% chance their child will inherit two healthy genes and be completely unaffected. There's a 50% chance their child will inherit one healthy gene and one faulty gene, making them a carrier like their parents, but also healthy. Finally, there's a 25% chance their child will inherit two faulty genes and develop the disorder.

One example of an autosomal recessive disorder is Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency. In this condition, the body doesn't have enough of an enzyme called MCAD. This enzyme helps the body break down certain fats called medium-chain fatty acids. Without enough MCAD, the body struggles to use these fats for energy. This can lead to low energy levels and low blood sugar. The built-up fatty acids can also damage tissues.

MCAD deficiency is caused by a change in a gene called ACADM. This gene change is passed down through families in an autosomal recessive pattern, meaning both parents must carry a faulty copy of the ACADM gene. Each parent has one healthy copy and one faulty copy of the gene but they themselves don't show the symptoms of the disorder. A child with MCAD deficiency inherits two faulty copies of the ACADM gene, one from each parent.

Crucially, if a person inherits only one faulty ACADM gene, they won't develop MCAD deficiency. They're still a carrier of the faulty gene and could pass it on to their children. But their children would only develop the condition if they inherit a faulty copy from both parents.

If both parents carry a specific gene linked to Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency, their child faces a risk of inheriting the condition. This happens when the child receives two copies of this gene, one from each parent. In contrast, if a child only gets one copy of the affected gene from one parent, they usually won't have MCAD deficiency themselves. Instead, they become carriers of the gene, meaning they can pass it on to their own children.

Untreated Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency can have serious consequences. A metabolic crisis, a disruption in the body's ability to process certain fats, can lead to several dangerous health problems. These include:

• Seizures: Sudden, uncontrolled electrical activity in the brain.
• Liver problems: Damage to the liver, which can lead to inflammation and reduced function. This can affect the liver's ability to perform its vital tasks, such as filtering toxins from the blood.
• Brain damage: Damage to brain cells, potentially leading to permanent disabilities, including learning difficulties or intellectual impairment. This damage can happen if the body doesn't get the energy it needs to function correctly.
• Coma: A state of deep unconsciousness, where the person is not responsive to stimuli.
• Sudden death: In severe cases, the metabolic crisis can be fatal. This is often a sudden and unexpected loss of life.

It's crucial to seek medical attention promptly if you suspect MCAD deficiency or experience symptoms of a metabolic crisis. Early treatment can significantly reduce the risk of these severe complications.

Diagnosing MCAD Deficiency

MCAD deficiency is a condition identified through a process that starts with a newborn screening test and then, if needed, genetic testing.

Newborn Screening: Many countries, including all US states, routinely test newborns for MCAD deficiency. A small blood sample is taken from the baby's heel. This blood is then checked in a lab. If the results of this initial screening show a level outside the normal range, further tests are needed.

Genetic Testing: If the screening shows a possible problem, genetic testing is used to pinpoint the specific gene that's causing the MCAD deficiency. To do this, a sample of the baby's blood, saliva, cheek cells, skin cells, or other tissue is taken and sent to a lab for analysis. Sometimes, doctors may also recommend genetic testing for family members to understand the risk of passing on this condition. Genetic counseling is often available to help families understand the testing process and the meaning of the results.

Working with Specialists: A doctor specializing in metabolism (a metabolic specialist) and often a registered dietitian will be involved in your child's diagnosis and treatment. They will use lab tests to assess how well the body is processing and using energy (metabolism). These tests can help determine if there are any related problems, and how to best treat or prevent further complications.