Metabolic defects

Metabolic defects offer useful insight into understanding the impact of noncommunicable disease on the function of the human body. In humans, for example, the lack of an enzyme known as phenylalanine hydroxylase, which is necessary for the metabolism of the common amino acid phenylalanine, leads to the disease phenylketonuria (PKU), which appears at a few weeks of age and, if not treated, is often associated with the onset of intellectual disability. Other metabolic defects may make their appearance only relatively late in life. Examples of this situation are the diseases gout and type 2 (late-onset, or adult-type) diabetes. Gout results from an accumulation within the tissues of uric acid, an end product of nucleic acid metabolism. Late-onset diabetes results from an impaired release of insulin by the pancreas and a reduction in responsiveness of body tissues to insulin that lead to the inability to metabolize sugars and fats properly.

Alternatively, the metabolic fault may be associated with aging and the concomitant deterioration of control mechanisms, as in the loss of calcium from bone in the condition known as osteoporosis. That these late-developing metabolic diseases also have a genetic basis—that is, that there is an inherited tendency for the development of the metabolic faults involved—seems to be definitely the case in some instances but remains either incompletely understood or uncertain in others.

Environmental hazards

Metabolic abnormalities also may result from the effects of external environmental factors, a relationship that has been suggested by the apparent confinement of certain diseases to sharply delimited geographic areas. Notable examples are goitre and mottled enamel of the teeth in humans. The development of goitre is attributable to iodine deficiency in the diet, which leads to compensatory growth of the thyroid gland in a vain effort to overcome the deficiency. The disease tends to occur in inland areas where seafood consumption is minimal and dietary supplementation of iodine—through such items as table salt—does not occur. Mottled enamel of teeth results from consumption of excessive amounts of fluoride, usually in water supplies. Conversely, dental caries (tooth decay) is found to occur to a greater extent in areas in which water supplies are deficient in fluoride.

Analogous conditions in herbivorous domesticated animals result from deficiencies in trace elements, such as zinc and selenium, in the soil of pastures and, therefore, also in plants making up the diet. Similarly, plant growth suffers from soil deficiencies of essential elements, particularly nitrogen, potassium, and phosphorus. These conditions can be corrected by adding salts to the diets of domesticated animals and by applying fertilizers to soil.

There also are diseases resulting from toxic substances added to the environment in sufficient amounts to produce symptoms of greater or lesser severity. Although human disorders of this nature are best known, untoward effects of such contamination of the environment occur also in plants and animals. The problems caused by environmental toxic agents are largely, if not entirely, anthropogenic. Occupational diseases, for example, are associated with factors that are present in the work environment or are otherwise encountered in the course of work. Examples of occupational diseases include asbestosis, silicosis, and byssinosis, which affect the respiratory tract and which are caused by inhalation of, respectively, asbestos, silica, and cotton dust. Also important in this regard are metal poisoning, particularly involving mercury, lead, or arsenic; poisoning with solvents used in industrial processes; and exposure to ionizing radiation. Of greater importance to the population at large are the diseases that result from exposure to insecticides and atmospheric pollutants. Such diseases usually, though not invariably, are of a chronic nature; they require prolonged exposure to the noxious agent and develop slowly. Environmental diseases of all kinds, however, also may predispose the individual to other diseases; for example, respiratory diseases such as silicosis render the sufferer more susceptible to tuberculosis.