Lipid Metabolism Disorder

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By: Sara Boroski

 

Many people believe that the only way to obtain energy for the body is from carbohydrates but, in actuality fats (lipids) are another great way to get energy for the body. Lipids function in cell membranes, lubricants, provides 85% of the energy generated by the body, and has the ability to signal cells to work. Lipids are continuously getting broken down and built up through lipid synthesis (building) and lipid oxidation (breaking down). In order for these two processes to work, certain enzymes have to be present in the body. Abnormalities can occur in enzymes and can lead to lipidoses which is an accumulation of fatty substances. Lipidoses can potentially be harmful for organs and the body. Enzymes used to convert energy to fats can also malfunction, causing problems to the body known as, Lipid Oxidation Disorders. Most Lipid metabolism disorders are rare due to the majority of them being hereditary. Although, like with all diseases/ disorders, people should be informed of what can happen to the body.

The most commonly known lipid metabolism disorder is Gaucher disease and can be characterized by having a built up of glucocerebrosides. Glucocerebrosides are found in non neuronal tissues and are a products of fat metabolism in mostly Eastern Europeans. Having this accumulation can lead to enlargement of the liver and spleen causing a brownish pigmentation to the skin. If seen in the eyes, yellow spots called pingueculae start to show. If glucocerebrosides accumulation is found in the bone marrow causes pain and will start to destroy the bone.

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Another disease that is caused by accumulations of fats is Fabry’s disease which caused by glycolipid build up in tissues. Fabry’s disease can cause skin growths, pain in the extremities, poor vision, fevers, and kidney or heart failure. Because the defective gene for this rare disorder is carried on the X chromosome, the full-blown disease occurs only in males. The accumulation of glycolipid could cause a noncancerous skin growth that develops on the lower part of the abdomen. The corneas become cloudy giving this particular person poor vision. Sometimes, a burning pain may develop in the arms and legs. If this develops in children, they may have episodes of fever more so than older men. Sadly, children with this disease eventually develop kidney failure and heart disease, although most often, they live into adulthood. Kidney failure can lead to high blood pressure, resulting in stroke.

Unfortunately, this disease cannot be cured or treated directly but researchers are looking into a treatment where the deficient enzyme is replaced by transfusion. The treatment would consist of taking analgesics to help relieve pain and fever or anticonvulsants. People with kidney failure may need a kidney transplant.1

As you can see by these two diseases, having even one enzyme not function properly can cause departmental problems. This just proves to show how sensitive the body truly is. That one little mishap can create a catastrophe.


References:

  1. Sanders L. Disorders of Lipid Metabolism – Children’s Health Issues … Disorders of Lipid Metabolism. https://www.merckmanuals.com/home/children-s-health-issues/hereditary- metabolic-disorders/disorders-of-lipid-metabolism. Accessed October 20, 2016.

 

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