Guide To Metabolic Disorders

Metabolism is a term used to describe a complex process that occurs in the body where energy is obtained from the food an individual has consumed. The food an individual consumes is made of three components called fats, proteins, and carbohydrates. These three components must be broken down into the substances that create fuel for the body, or sugars and acids. Once these substances have been made, they can be stored in body tissues like the muscles, fat, and liver, or they may be used right away as fuel. 

A metabolic disorder forms when this process becomes disrupted by some mechanism involving abnormal chemical reactions. Some metabolic disorders have effects on the breakdown process of carbohydrates, lipids, and amino acids. Many individuals develop metabolic disorders when the associated organs become diseased, like the pancreas and liver. Different types of metabolic diseases produce varying effects on the body. 

Gaucher Disease

Gaucher disease is a rare metabolic disorder that involves the deficiency of an important enzyme in the body that causes harmful quantities of specific lipids throughout the body. The deficiency of glucocerebrosidase allows the buildup of a lipid called glycolipid glucocerebroside in critical tissues like the liver, bone marrow, and spleen. Common complications of this metabolic disorder include hepatosplenomegaly, low platelet count, and low red blood cell count. Symptoms of these complications and others include easy bruising, excessive bleeding, weakness, pale skin, bone fractures, low muscle tone, muscle spasms, crossed eyes, difficulty with swallowing, and high-pitched breathing. 

Mutations that occur in an individual's GBA gene are what cause Gaucher disease. This mutation is inherited from the individual's parents in an autosomal recessive fashion. Gaucher disease is diagnosed with the use of several blood panels, including an enzyme essay and other genetic tests. Treatment for Gaucher disease is highly individualized and often includes the direct replacement of missing enzymes.

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