Anomalies of Metabolism: Hereditary Fructose Intolerance

Running head: HEREDITARY FRUCTOSE INTOLERANCE 1

HEREDITARY FRUCTOSE INTOLERANCE 5

Hereditary fructose intolerance
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Introduction
Metabolic reactions are considered vital in any living organism. Abnormalities however interfere with the normal functioning of metabolism. Hereditary fructose intolerance for instance interferes with the ability of human body to digest fructose (Hoffmann, Zschocke & Nyhan, 2010). This piece of paper gears at demonstrating an understanding of the biochemical basis of the disorder.
Metabolic reactions are facilitated by enzymes. For instance, the digestion of fructose is facilitated by the enzyme aldolase B. Enzymes therefore differ from substrates in the view that they help in fastening chemical processes such as metabolism but they are left unaffected. Enzymes are similar to chemical catalysts that hey only affected the rate of chemical reaction rather than its equilibrium, they can increase or decrease such reaction and abide by the substrates during chemical reactions (Anslyn & Dougherty, 2006). They are however different from chemical catalysts in that; they are specific since they catalyze a specific type of reaction and abide by a single substrate compound. In addition, they work under mild temperatures and atmospheric pressure unlike chemical catalysts that require high temperatures or pressure to facilitate reaction (Anslyn & Dougherty, 2006).
In biological terms, metabolism of fructose is called fructolysis and occurs in sequentialsteps. In human beings, fructolysis majorly occurs in the liver unlike glycolysis that that occurs widely on the body. The products of fructolysis are directed to the liver to replenish glycogen and triglyceride. In the first step of fructolysis, fructose is phosphorylated by fructokinase to form fructose 1-phosphate that traps fructose towards the liver for metabolic reactions (Reiser & Hallfrisch, 1987). Glucokinase in the liver also phosphorylate fructose to form fructose 6-phosphate which is eventually converted into fructose 1-phosphate in the liver. The second step is the hydrolysis of the fructose 1-phosphate by the enzyme aldolase B to generate dihydroxyacetone phosphate and glyceraldehyde.The latter is isomerizedby triosephosphate isomerase to produce glyceraldehyde 3-phosphate or reduced by glycerol 3-phosphate dehydrogenase to produce glycerol 3-phosphate. Glyceraldehyde kinase on the other hand converts glyceraldehyde to glyceraldehyde 3-phosphate (Reiser & Hallfrisch, 1987). Intermediates of fructolysis at the point may be used for glycogen synthesis or oxidized to pyruvate which is eventually reduced to lactate.
This is associated with mutation which is detected by blood relationship the outcome of the mutation is either homozygous and heterozygote (Fernandes et al, 1995). This is effective to the respective and prevalent aldolase B. mutation is tested by the activating the aldolase B and the variant enzyme. Deficiency in emzyme aldolase B is always less of the fructose-1-phosphate. This causes accumulation of fructose-1-phosphates leveling inorganic phosphate and accumulation of the AMP. The AMP forms uric acid especially when the amount of inorganic phosphate is low or completely absence. When the levels of the ATP lower can lead to the decrease in the levels of gluconeogenesis leading to hypoglycemia. These are the most essential part that plays the controls of the body organs like the liver and its functionality. The concentration of the intercellular Fructose is phosphorylated (Fernandes et al, 1995). Combination of these enzymes makes up the following;
Fructose + ATP = Fructose-1-phosphate + ADP
The indigestion of foods that have high content fructose can lead to liver and kidney failure and diseases that can come from their failures. These diseases include the liver cirrhosis, hepatomegaly, jaundice and many others. Its low levels might lead to a disease known as malabsorption where the intestines of the patient are incapable of absorbing fructose. This failure can later cause bloating, constipation and stomach pain.

References
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Anslyn, E. V., & Dougherty, D. A. (2006). Modern physical organic chemistry. Sausalito, Calif: University Science Books.
Fernandes, J., Saudubray, J.-M., Berghe, G., Tada, K., & Buist, N. R. M. (1995). Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin, Heidelberg: Springer Berlin Heidelberg.
Hoffmann, G. F., Zschocke, J., & Nyhan, W. L. (2010). Inherited metabolic diseases: A clinical approach. Heidelberg: Springer.
Reiser, S., & Hallfrisch, J. (1987). Metabolic effects of dietary fructose. Boca Raton, Fla: CRC Press.
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