As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder, such as lethargy and hypoglycemia. These mutations prevent the normal processing of long-chain fatty acids from food and body fat. Mutations in the HADHA gene that cause LCHAD deficiency disrupt one of the functions of this enzyme complex. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Fatty acids are a major source of energy for the heart and muscles. These fatty acids are stored in the body's fat tissues. Long-chain fatty acids are found in foods such as milk and certain oils. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function.
![long chain acyl coa dehydrogenase deficiency nbme 16 long chain acyl coa dehydrogenase deficiency nbme 16](https://0.academia-photos.com/attachment_thumbnails/62176738/mini_magick20200929-7725-86t9qi.png)
This enzyme complex functions in mitochondria, the energy-producing centers within cells. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. Mutations in the HADHA gene cause LCHAD deficiency. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes.
![long chain acyl coa dehydrogenase deficiency nbme 16 long chain acyl coa dehydrogenase deficiency nbme 16](https://slideplayer.com/slide/10512558/35/images/22/MCAD+Deficiency+by+a+deficiency+of+medium-chain+acyl-CoA+dehydrogenase+(C6-C12)%2C+1p31.+Symptoms..jpg)
Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye ( retina ). Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).