Phenylketonuria is a rare birth defect in which a mutation causes the inability to metabolize phenylalanine, an essential amino acid. Why phenylalanine can’t be broken down is because a required enzyme is not produced by your body due to a genetic error.
With this health condition, the consumption of too much phenylalanine causes musty odor and mental impairment symptoms. The diet restriction of this protein is the fundamental treatment for relief of phenylketonuria symptoms and effects.
However, dietary restriction of phenylalanine must be initiated shortly after birth for the best results. Otherwise, the buildup of this amino acid may cause some serious permanent health problems, especially to your brain and central nervous system. Therefore, in the U.S. babies are routinely screened for phenylketonuria soon after their birth.
It is recommended that those with phenylketonuria follow a strict diet that limits phenylalanine for life. During the formative years, if your diet isn’t restrictive, too much phenylalanine can cause the development of these symptoms:
- stunted growth
- mental retardation
- behavioral, social issues
- musty odor ~ breath, skin, urine
- jerking movements of arms & legs
The musty odor is caused by too much phenylalanine in your body and this symptom is a good indicator that you need to restrict it more extensively in your diet.
The enzyme deficiency of phenylketonuria can be total or just not enough. In those without it, untreated phenylketonuria usually causes permanent mental retardation. With less severe forms, the risk of significant brain damage is reduced, but a special diet will be necessary to prevent other health complications.
Phenylketonuria is a very treatable health condition. The main treatment is a dietary restriction involving an extremely low intake of phenylalanine.
Generally, you’ll need to consume some phenylalanine for healthy growth and body processes. But the amount you can safely consume will be unique for you. And this amount will be determined via blood test monitoring phenylalanine levels and dietary adjustments in response.
Phenylalanine occurs in a significant amount in high protein foods. As such, it’s crucial to avoid foods like:
- all types of meat
In addition, you’ll possibly need to restrict your intake of:
- certain fruits & vegetables
The artificial sweetener aspartame also contains phenylalanine. Thus, any product containing aspartame needs to be out of your diet. Unfortunately aspartame is slipped into numerous processed foods, so read those labels.
As part of a diet restriction treatment, you may be prescribed a special formula composed of protein that’s extremely low in phenylalanine.
Although the diet restriction treatment for phenylketonuria is very challenging, the dietary limitations are critical to preserve your health and keep that musty odor away.