Disorders of aromatic amino-acid metabolism Save

Disorders of Aromatic Amino-Acid Metabolism

Amino acids are the building blocks of proteins, which play a crucial role in the human body. There are three types of amino acids - essential, non-essential, and conditional. Aromatic amino acids are one of the essential amino acids that the body needs to function correctly.

The metabolism of aromatic amino acids is a complex process that involves several enzymes. Disorders of the metabolism of these amino acids can cause serious health problems, including intellectual disability, seizures, and developmental delays. These disorders are caused by genetic mutations that affect the function of enzymes involved in the metabolism of aromatic amino acids.

Types of Disorders of Aromatic Amino-Acid Metabolism

1. Phenylketonuria (PKU) - This disorder is caused by a deficiency of the enzyme phenylalanine hydroxylase, which is responsible for breaking down phenylalanine. Without this enzyme, phenylalanine and its byproducts accumulate in the body, leading to intellectual disability, seizures, and behavioral problems.
2. Alkaptonuria - This disorder is caused by a deficiency of the enzyme homogentisate dioxygenase, which is responsible for breaking down homogentisic acid. Without this enzyme, homogentisic acid accumulates in the body, leading to joint pain, dark urine, and a blackening of the skin and sclera.
3. Maple syrup urine disease - This disorder is caused by a deficiency of any of the three enzymes involved in the metabolism of the branched-chain amino acids - leucine, isoleucine, and valine. Without these enzymes, these amino acids and their byproducts accumulate in the body, leading to developmental delays, seizures, and intellectual disability.

Treatment of Disorders of Aromatic Amino-Acid Metabolism

The treatment of these disorders involves dietary restrictions and the use of supplements. For example, individuals with PKU need to limit their intake of phenylalanine and consume special formulas that contain all the other essential amino acids. Similarly, individuals with maple syrup urine disease need to limit their intake of leucine, isoleucine, and valine and consume special formulas that contain all the other essential amino acids.

In conclusion, disorders of aromatic amino-acid metabolism are a group of genetic disorders that can have serious health consequences. These disorders are caused by mutations that affect the function of enzymes involved in the metabolism of aromatic amino acids. The treatment of these disorders involves dietary restrictions and the use of supplements.