DEFINITION
Most food and beverage is a complex matter that must be
solved by the body into a more simple materials. This process could include
several steps. Materials simpler then used as a building block to create
substances that the body needs to sustain life. The main builder substances
needed by the body are carbohydrates, amino acids, and fats. The process of
breaking and changing edible ingredients is called metabolism.
Run by the metabolism of chemical substances made by the
body, called enzymes. If a genetic disorder affecting the function of the
enzyme or cause less / absence of certain enzymes, there can be a variety of
disorders. This disorder is usually caused by the body's inability to break
down certain materials, making it accumulates in the body, and can cause toxic
effects. In addition, this disorder can also cause an inability to produce
several substances that are important for the body. Metabolic disorders are
divided based builder substances affected.
Some inherited metabolic disorders (eg phenylketonuria and
lipidosis) can be diagnosed in the fetus using amniocentesis or chorionic villi
sampling. Typically, inherited metabolic disorders can be diagnosed using a
blood test or examination of tissue samples to determine certain enzymes that
are less or no. Today many metabolic disorders that can be detected by
performing a routine screening examination shortly after birth.
REFERENCE
- S, Lee M. Overview of Hereditary Metabolic Disorders.
Merck Manual. 2009.
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