Acyl CoA Dehydrogenase

There are different kinds of rare genetic disorders that involves the deficiency of an enzyme known as Acyl CoA dehydrogenase to metabolize fat. In some cases, the severity of the symptoms can result to death after the first decade of the individual’s existence. While others for those who manage to survive beyond this period they suffer from psychomotor and regression. Each of the gender respond differently to the effects of having Acyl CoA dehydrogenase deficiency with males undergoing progressive neurodegeneration. Female patients on the other hand suffer from developmental delay. Suffice it to say the female patients fare better than how male patient responds. This rare biochemical disorder affects the Acyl CoA dehydrogenase enzyme that results to a certain effects on the body tissue and even the skeletal muscles.

This is why fasting is prohibited for individuals who suffer from this disorder. It is during fasting when the body tries to rely on fats for energy and since this disorder prevents the conversion of fat into energy the body systems fails and may cause eventually into death. In some cases, patients whose fatty acids fail to completely metabolize may experience buildup of these fatty acids into various organs thus causing other serious complications. The condition of lacking in Acyl CoA dehydrogenase results into three sub-class of this rare genetic disorder. The category that a patient falls under will depend on how severely affected he is by the condition. There is an early onset, an intermediate and adult onset of this disorder. This condition is categorize as a form of disability. This disorder is cause by genetically inherited defect one or more enzymes that affects lipid metabolism.

When lipids accumulate this forms in the liver, spleen, small intestines, adrenal glands and lymph nodes. It is when these lipids buildup calcium deposit in the adrenal glands. Most of the signs associated with Acyl CoA dehydrogenase deficiency can results tot eh following symptoms like vomiting, poor weight gain, diarrhea, low muscle tone, enlarged liver, developmental delay, enlarge spleen, low amount of iron in the blood, yellow tinge of the skin and whites of the eyes and poor absorption of nutrients from food. If the patient is a child he becomes severely malnourish. Because of this he might not live past his early childhood. These are categorize as autosomal recessive which simply means that both of the parents are suffering from lack of Acyl CoA dehydrogenase enzyme.

There are several ways of diagnosing and confirming that an individual has Acyl CoA dehydrogenase deficiency. For mothers that has this condition a prenatal diagnosis can be made via amniocentesis. X-ray imaging can also be used to check out if there is calcification of both adrenal glands. An enlarged adrenal glands is one of the signs of this condition. The use of CTI and MRI imaging can show if the patient’s liver and spleen is normal or enlarge. These imaging can also show calcification of adrenal glands and even show an enlarged lymph nodes. This proves the fact that CTI and MRI imaging. In terms of treatment for Acyl CoA dehydrogenase deficiency is treated by introducing intravenous nutritional supplements. Other alternative is to use blood transfusion to treat anemia. The bad news is that there are no known specific treatment even up to this time on how to prevent lipid buildup. The solution is to undergo surgical remove of the spleen when it becomes that severe. If in case the adrenal glands will not work as it should, doctors usually administer medication that can replace the hormones that the individual needs to secrete.

There are studies made where bone marrow transplant was used to treat Acyl CoA dehydrogenase. Some patients respond better than others. Some enter remission where the disease begins to affect the health of the patient while there are some cases that the patient has successfully responded to the treatment. There was a time when the inability to metabolize fats was blame for causing age spots. The truth is that an excessive exposure of the skin under the ultraviolet light of the sun causes this age spots. However, there is a need to monitor liver spots that form on the skin because this can be a sign of skin cancer.

Some people can try to find ways to improve their body’s fat absorption however, in the case of Acyl CoA dehydrogenase deficiency the situation calls for a person whose levels of this enzyme is normal. Fat malabsorption can cause real problems like liver congestion where the live fails to synthesize good bile. Because of fat malabsorption, the gallbladder cannot release the sticky bile. The patient’s body lack pancreatic enzyme as well that helps to digest fat. Normally, when an individual does not have a condition like this his hormones and toxins leave his body through the bile into the gallbladder. Some of the common symptoms of fat malabsorption are greasy and light colored floating stools, gas and belching every time the individual eats, gallbladder pain and nausea after eating.

To sum it all up, Acyl CoA dehydrogenase is a deficiency of rare disorder where the body lacks enzymes that are needed to convert some fats into energy. This rare genetic disorder is aggravated when the patient undergoes fasting. The same thing can be said when the patient gets sick. Since each individual is difference from each other some people will not feel any symptoms their entire life whereas others will suffer from different symptoms when they are an infant. Suffice it to say, that for those who are suffering from Acyl CoA dehydrogenase deficiency their body cannot metabolize fat properly because they lack this enzyme.  A child that has this disorder has receive the defective genes from his parents. However, this condition is extremely rare in every population. The gene mutates thus it fails to metabolize certain types of fat. Because of this cholesterol and triglycerides buildup inside of the body thus remaining in the adrenal glands, intestines, liver, lymph nodes and spleen. Some babies that are affected by lack of Acyl CoA dehydrogenase deficiency will appear healthy however, pretty soon the signs and symptoms of the disease sets in.