What are the innate metabolism mistakes?

Congenital errors of metabolization are genetic, congenital disorders that disrupt the way the body metabolizes or uses the substances it receives, usually through food. There are many of these conditions. A total of about 0.04% of the population suffer from these "mistakes" and a defective gene that cannot be dismantled or used correctly to use the body, usually characterizes them. This means that the body cannot get the necessary substance, or in the body the substance accumulates to a harmful or even fatal level.

There are two main groups of congenital metabolism errors. In diseases such as PKu, the body is that the body accumulates too much chemicals, because the genetic defect has robbed it of its ability to break this chemical. The second group consists of disorders where the body cannot use or metabolize something that receives the body methods or other necessary resources.

The most common permits of metabolism are the disease phenylketonuria (PKU), ktErá affects about 2.4 out of 100,000 people. With this disease, the body lacks the ability to decompose phenylalanins and they cause harmful accumulation that can affect mental and physical health. The concern for this disease is so strong because it starts immediately in childhood and without diagnosis can quickly cause irreversible mental retardation.

Many countries routinely test newborn on the PKu to prevent it. If it is diagnosed early, the chances of a healthy life are good. As with many congenital metabolism errors, the aim of treatment is to avoid substances that cause problems. People with PKU must eat food absent phenylalanines to avoid this harmful accumulation.

Glycogen storage disease is another type of congenital mistakes of metabolism. Those affected lack genes that are falling apart glycogen, which is stored in the form of glucose in the body. The result is an occasional frequent impabilityUse stored glucose as needed for energy. Without intervention, such as the use of oral glucose or other drugs, some types of this condition threaten life.

There are many other types of innate metabolism errors and many of them are extremely rare. They are often inherited in an autosomal recessive formula where both parents must pass the defective gene to offspring. If these diseases occur in childhood, they help diagnose the presence of constellations of symptoms, including inability, poor growth, abnormal development and irregular blood levels. Sometimes the diagnosis does not occur until the child is seriously ill and some of these conditions can cause dangerous crises, such as sudden seizures or organ failure.

Several congenital metabolism errors will not be reflected later in their lives and some patients would not receive a diagnosis until the scent of adulthood or later. This does not mean that these diseases are less serious. Treatment, predicted to T, is required in virtually all casesYPU disease.