Key Indicators Of Phenylketonuria

Phenylketonuria (PKU) is a disorder where an amino acid called phenylalanine accumulates inappropriately in the body. Phenylalanine is a protein building block the body obtains through the consumption of food. Phenylketonuria occurs when there is a mutation of the PAH gene, which produces the enzyme responsible for the breakdown of phenylalanine called phenylalanine hydroxylase. Without enough phenylalanine hydroxylase, the body cannot process phenylalanine from the diet effectively. Nerve cells within the brain are exceptionally sensitive to levels of phenylalanine, which explains why a buildup of this substance in the blood and other tissues can result in damage to the brain. A newborn baby affected by phenylketonuria will not exhibit any symptoms at first. However, untreated babies will develop symptoms within the first several months of life.

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Musty Odor In Breath And Urine

Individuals affected by phenylketonuria commonly experience a musty odor in their breath and their urine as a result of the excess phenylalanine in their body. The excess phenylalanine occurs in the body because the patient is deficient in phenylalanine hydroxylase. Since there is no phenylalanine hydroxylase to break down phenylalanine correctly, it is abnormally metabolized into two byproducts in the patient's body. The musty odor that comes out in the sweat and the urine of individuals with phenylketonuria is a result of the presence of phenylacetate. Phenylacetate is a fatty acid metabolite or byproduct produced as a result of the irregular metabolization of phenylalanine. The body has no practical use for this metabolite and eliminates it from the body through the avenues of urine and sweat. When phenylacetate accumulates to an excessive level in the bodily fluids, it can make a presence in the patient's saliva. It is the phenylacetate in the saliva that causes an individual with phenylketonuria to have a musty odor in their breath.

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