Phenylketonuria is a rare genetic disorder characterized by the abnormal buildup of the amino acid phenylalanine, which is found in most meats and some artificial sweeteners. People with phenylketonuria cannot process this compound, and build-ups can reach dangerous levels if the symptoms are not idenfied and it is not treated promptly and properly.


Some children tend developing seizures. This happens if PKU is not identified at an early age. This can be dangerous mostly because PKU seizures are more or less unpredictable. With such knowledge, it's not entirely possible to know what can happen. This brings forth a feeling of uncertainty to the entire family. When it comes to dealing with PKU, the first thing one should do is remove eggs from his or her diet. Proteins from animal sources are filled with phenylalanine. This maneuver can do much to the benefit of your child's health. Eggs are pretty much everyone's diet foundation. If the situation improves, consider removing other protein sources.




Being less severe than full-blown seizures, tremors can still be scary and unpleasant. Children often get scared because of them, due to an unknown cause. PKU can vary in intensity; therefore, tremors can be both strong and weak. Some studies connect the mind state with tremor severity, but it lacks evidence. To stop this and the other symptoms, the child needs a special, modified diet. They need the PKU formula, all the essential amino acids without phenylalanine. This will ensure normal bodily development, plus an additional lack of PKU scares. Therefore, it's safe to say that dietary changes hold the key to eradicating PKU.



Stunted growth

Protein synthesis and absorbing amino acids is a significant part of bodily development. If something goes wrong in the system, the child's body may temporarily stop developing. Such an occurrence may prove to be fatal in the long run, as some developmental issues can' be solved at all later. This is why it's important to notice this condition right away. To combat growth problems, it's paramount that you see a doctor immediately. He is sure to assess the level of severity of the PKU. Depending on that, you may or may not see heavy dietary alternations. If your child is lucky, they will only need slight dietary adjustments. If not, then a strict meal plan is to be followed. Even with that, a long and peaceful life is possible.




Usually, when a particle or compound starts accumulating, there will be behavioral symptoms. In young children, the most common deviation is hyperactivity. This is an obvious and not so obvious symptom at the same time. Often, doctors and parents are quick to mistake this for ADHD. A failure to diagnosis can lead to complications. If you see that your child is hyperactive, don't be lazy. It's necessary to do all the needed tests to prevent a period of undiscovered PKU. With every protein filled bite you eat, the condition will get more severe. In some cases, the hyperactivity is known to escalate.




Eczema is another symptom that can be easily mistaken for something more ordinary. On suffering from eczema, there are chances that it is due to stress that the person endures. Although this may be true, this isn't always the reason. When your body rejects something, it may manifest symptoms through the skin layers. Don't ignore this manifestation, as it can prove to be costly. To treat eczema solely as a symptom, you should consult your dermatologist. Upon pinpointing PKU, you can easily find a viable diet plan for your child. Eczemas, like other symptoms, can vary from person to person.



Skin odor

Non-decomposing amino acids have a nasty habit of forming build up when remaining in the body. The result is most often strange, but strong body odor coming out of the pores. Most experts would describe it as a strong sweet smell.

Another good way of treating PKU is taking sapropterin. It is a recently approved PKU treatment medication. It can maximize the effects of an already stable diet.



Urinal discoloration

When encountered with an over-abundance of amino acids, your body excretes it via urine. This can work in some cases, but only if there is a small amount. Anything above that "limit" has to be dissolved within the body. Thus, urinal discoloration is a classic sign of PKU. When taking your child to your MD, be sure to give the full slate about the condition. The treatment at first will be to drink a lot of water to see if the condition remains. After that, the doctor may suspect protein-based problems.



Irreversible brain damage

Although the sheer mentioning of this symptom is bone-chilling, it can happen. It's only in extreme cases if a child is left untreated and neglected. Another contributing factor to the appearance of this symptom is a detrimental diet. The best way to act in this situation is to monitor the day to day situation. A good sign for brain damage ensuing would be a series of cognitive difficulties. Memory lapse, a short attention span and a lack of focus are the prime signs of PKU affecting the brain. It's not too late to act.



Poor bone strength

Bones actually benefit from a good balance within our organism. Any accumulating substances may have a detrimental effect on the way our skeleton behaves. PKU is one such condition that can weaken the bones if left untreated. An excellent treatment, in this case, would be an increased dose of calcium. But keep in mind that the child needs pure calcium, not the one from dairy products! They contain protein, which contains Phenylalanine.




Like eczema and psoriasis, a rash can also signify some severe internal problems. The skin layers are often affected by the internal workings of the body. An accumulation of an unwanted substance can cause such a reaction. When coming into contact with it, it's important to see how the situation develops. Moreover, you will most likely see other symptoms developing as well. According to the doctor’s advice, your child is given a specialized diet and a skin ointment to calm the rash down.



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