Inborn Metabolic Disease: Tyrosinemia

Inborn Metabolic Disease: Tyrosinemia

Metabolism is the different processes and enzyme-catalyzed reactions that the body uses to make energy. 1 Proteins, carbohydrates, fats, and amino acids are used to make the sugars and acids needed to fuel the body with the necessary components to sustain life. 1 The body can then store this energy in tissues, mainly in the liver and muscles, or it can store the energy in the form of body fat. This body fat can then act as a reserve or it can be used directly when it is needed.

Metabolic disorders take place when atypical chemical reactions take place and prevent the vital processes from producing the normal needed products. 2 They can also present themselves in the form of preventing the body from controlling a normal level of a certain chemical, which in turn can take a large toll on a person’s liver, muscles, and heart. 2 The metabolic disorder that will be reviewed in this paper is tyrosinemia. Tyrosinemia is a metabolic disorder regarded as an increase in the levels of the amino acid, tyrosine, in the blood. 3 This is due to a deficiency of a specific enzyme that is part of the multi-step process of tyrosine degradation. This leads to a buildup of the amino acid which in result wreaks havoc on the body’s organs. 3 There are three main types of tyrosinemia: Type I tyrosinemia, Type II tyrosinemia, and Type III tyrosinemia3. Each type is different in its symptoms, severity, and in the enzyme that is defective.

The amino acid that is involved in this disorder is tyrosine. Tyrosine is one of the most insoluble amino acids4. It comes from two sources, diet and hydroxylation of phenylalanine. 4 The degradation of tyrosine is a catabolic pathway. Catabolic pathways are used to break down larger ...

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2. http://www.mayoclinic.org/diseases-conditions/inherited-metabolic-disorders/basics/definition/con-20036708 (accessed 04/21/2014)

3. http://emedicine.medscape.com/article/949816 overview#a0104 (accessed 04/21/2014)

4. Fernandes, J. Saudubray, J. van den Berghe, G. Inborn Metabolic Dieases, 4th ed. Germany, Springer Medizin Verlag Heidelberg 2000, 2006; pp 234-240.

5. https://www.rpi.edu/dept/bcbp/molbiochem/MBWeb/mb2/part1/aacarbon.htm (accessed 04/21/2014)

6. http://www.ncbi.nlm.nih.gov/books/NBK1515/ (accessed 04/21/2014)

7. http://www.pnas.org/content/96/21/11928/F1.large.jpg (Figure 1.) (accessed 04/22/2014)

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