DEFINITION
Amino acids are components of protein that has many
functions in the body. Hereditary disorders of amino acid (derived) can be
caused by disorders of amino acid breakdown or inability of the body to
incorporate amino acids into the cell.
Some disorders that often occur are
usually routinely inspected immediately after the baby is born, such as:
·
Phenylketonuria. This disease occurs in infants
who are born with an inability to solve the amino acid phenylalanine.
Phenylalanine, which is toxic to the brain, become accumulates in the blood.
·
Maple Syrup Urine Disease. The disease is caused
by a deficiency of an enzyme required for the metabolism of amino acids.
Byproducts of this amino acid causes the urine smell like maple syrup.
·
Homocystinuria. The disease is caused by a
deficiency of enzymes required for the metabolism of homocysteine.
·
Tirosinemia. The disease is caused by a
deficiency of enzymes required for the metabolism of tyrosine.
Each of these disorders is discussed further in the other
article.
REFERENCE
- S, Lee M. Disorders of Amino Acid Metabolism. Merck Manual
Handbook. 2009.
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