Fat oxidation disorders are genetic diseases that prevent the body from properly obtaining energy from fat. There are several types, including MCAD, VLCAD, and TFP deficiency, which can lead to serious health problems if left untreated. Symptoms can occur in infancy or early childhood and include fatigue, loss of appetite, and seizures. Treatment and early detection are crucial to prevent severe respiratory distress, brain damage, and even death.
Fat oxidation disorders (FOD) prevent a person from properly obtaining energy from fat. This is a genetic disease that can lead to a number of very serious health problems. There are several types of this disorder, including medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, very long-chain acyl-CoA dehydrogenase (VLCAD), and trifunctional protein (TFP) deficiency. Without treatment, fat oxidation disorders in children can cause seizures, brain damage, and severe respiratory distress. Episodes of coma and cardiac arrest can even lead to death.
Fat oxidation disorders occur as a result of mutated genes that cause a reduction in the number of enzymes needed to break down fats into usable energy. Although fat oxidation is genetic, a parent can only be a carrier of this group of disorders and may not be aware of the possibility of passing it on to their offspring. However, it takes two genes for fat oxidation disorders to occur, which means that each parent must pass this gene on to their child for a child to be affected. If only one parent passes on the gene and the other does not, the child will also be a carrier, but will not be affected by symptoms of the disorder.
MCAD occurs as a result of a missing enzyme. Individuals with MCAD will show symptoms in infancy and early childhood, although some are not officially diagnosed until later in life. Symptoms include fatigue, loss of appetite, sudden onset of an ear infection, vomiting, or sudden onset of cold or flu symptoms after appearing to be completely healthy. When undetected in childhood, MCAD is sometimes misdiagnosed and can be fatal if not recognized early enough. Historically, doctors were largely unaware of the presence of MCAD, but many babies are now routinely tested for this fat oxidation disorder soon after delivery.
Like MCAD, TFP will have similar symptoms of fat oxidation disorder in infancy or early childhood. Other symptoms may include a lack of response to pain in infancy, irritability, clammy skin, muscle weakness, and walking delays. While children with these disorders may rely on glucose for sustained energy, a loss of appetite common in children with FOD can drive blood sugars dangerously low and trigger an episode of moderate to severe symptoms.
In VLCAD, symptoms occur when blood sugar levels drop. As a result of this decline, long-chain fatty acids don’t break down, which results in too many of them being present in the body. This overpopulation can cause the heart muscles to weaken and enlarge. These symptoms create a chain reaction also disrupting the rhythm of the heart and causing damage to other vital organs, such as the kidney and liver, which depend entirely on optimal blood circulation for functioning.
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