In your assigned readings, you learned about biological molecule synthesis and degradation. Our cells are busy both building and breaking down macromolecules for both structural and functional purposes. Enzymes are necessary for the effective synthesis and degradation of macromolecules. Metabolic diseases result from either the lack of or defective enzymes. For this discussion, you will select a specific metabolic disorder. Describe the defect in metabolism responsible for the disorder identifying any enzyme(s) involved. Analyze the symptoms of the disease based on the metabolic disturbance. Discuss therapy available for treatment of the disorder. Does the therapy treat the symptoms or the metabolic nature of the disease? Explain.
One of the most common metabolic disorder is 'Lactose intolerance'. A person with this disease has the impaired ability to digest lactose, mainly found in milk and other dairy products. Approximately 65% of the human population has reduced ability to digest lactose. The disease is most prevalent in East Asia where 90% of the adult population is affected by it.
The inability of the patient for intolerance to the lactose is due to the absence or reduced production of the enzyme β-galactosidase or lactase. The deficiency of β-galactosidase in the small intestine results in impaired lactose metabolism, thus the lactose cannot be breakdown into its component monosaccharides, galactose, and glucose. In contrast to the monosaccharides, the undigested lactose cannot be absorbed across the small intestinal epithelium. Instead, the undigested lactose thus passes into the colon (large intestine), where resident bacteria metabolize the lactose into CO2, H2, and H2O. Due to this patient shows symptoms like bloating, flatulence, abdominal cramping, and frothy diarrhea.
Unfortunately, there is no definitive treatment or cure for this disorder. However, the supply of lactase to the body through lactase containing tablets prescribed by the doctor. The best way to combat the disease by changing the daily lifestyle where consumption of lactose-free foods, calcium-rich leafy vegetables should be included in the meal. Recent studies on this disease still going on and optimistically drug like RP-G28 are now in clinical trial.