Proteins can be broken down to amino acids using enzymes. These amino acids are released into the small intestine, from where they pass into the bloodstream and are carried throughout the organism. These amino acids are, again, used to assemble the new and different proteins required for its specific functions.
High levels of amino acids within the urine indicate that the body is simply excreting them rather than properly transporting amino acids through the body. Other reasons for high levels of amino acids in the body have been discussed in the section titled “Failure to modify amino acids in Proteins” This section discusses the various disorders arising due to the accumulation or high levels of amino acids in the body.
From the earlier section it is clear that high levels of amino acids mean that there is mainly a deficiency in enzymes required for metabolism of the various amino acids. This causes toxic products of the amino acid to be accumulated in various parts of the body leading to severe health complications. Some of the he various disorders that arise due to high levels of amino acids are
Phenylketonuria (PKU) is a disorder characterized by a deficiency of the enzyme phenylalanine hydroxylase (PAH), necessary to convert the Essential amino acid called phenylalanine to the Non-essential amino acid called tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine. This condition can cause problems with brain development, leading to progressive mental retardation and seizures.
Homocystinuria is a disorder that causes an accumulation and an increased excretion of homocysteine in the urine. People with high concentrations of homocysteine, an amino acid in the blood, may have an increased risk of stroke and are more likely to develop Alzheimer's disease (AD).
Histidinemia is caused due to deficiency of enzyme histidase needed for the metabolism of amino acid histidine. This condition can cause hyperactivity, speech impediment, developmental delay, learning difficulties, and sometimes mental retardation.
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