Biochemical Genetic TestingPruebas Bioquímicas Genéticas
Biochemical Genetic Testing What is biochemical genetic testing?
Biochemical genetic testing involves the study of enzymes in the
body that may be abnormal in some way. The enzymes may be
deficient or absent, unstable, or have altered activity which
can lead to clinical manifestations in a child (for example,
birth defects). These types of disorders are usually called
"inborn errors of metabolism" since they are present a birth and
affect how the body's metabolism works. Metabolism is a term
which describes how the body converts food to energy, and then
gets rid of the waste products. There are more than 200 enzyme
defects that can be studied in humans. Sometimes, rather than
studying the gene mutation which is causing the enzyme to be
defective in the first place, it is easier to study the enzyme
itself (which is the product of the gene). The testing approach
depends on the disorder. For example, mutations in the gene that
causes Tay-Sachs disease can