Phenylketonuria (PKU) is a metabolic genetic disease that occurs due to the deficiency of phenylalanine hydroxylase. Following a PKU diet is integral to the treatment of this condition. This write-up provides dietary guidelines that need to be followed by people who have been diagnosed with this disease.
Phenylketonuria (PKU) is an autosomal recessive genetic disorder that is caused by the deficiency of an enzyme called phenylalanine hydroxylase. This enzyme is required for the conversion of phenylalanine into tyrosine. Phenylalanine cannot get converted into tyrosine in the absence of this enzyme. As a result, the levels of phenylalanine get elevated, and it eventually gets converted into phenylketone. PKU is a congenital defect that occurs due to faulty genes. A diagnostic test is conducted to determine whether an infant is born with this condition or not. If the test results indicate the absence of phenylalanine hydroxylase, certain dietary guidelines need to be followed.
High phenylalanine levels can cause damage to the brain and central nervous system. If the level of phenylalanine is not controlled through diet, it could even result in mental retardation. If left untreated, children diagnosed with this condition might develop symptoms such as stunted growth, delayed development, excessive crying, irritability, skin discoloration, musty urine odor, and vomiting. If the levels of phenylalanine are consistently high, it might cause serious damage the brain. Those affected by this condition might have problems concentrating or understanding instructions. Delayed development or intellectual disability could manifest in the form of slow reaction time and low IQ.
Diagnosis and Treatment
If diagnosed at an early stage, this genetic disease can be kept under control. This is the reason why a PKU test is conducted on newborns. Under normal circumstances, the level of phenylalanine in the blood is 1 mg/dl. If the phenylalanine level is in the range of 6 to 80mg/dl, one’s brain and central nervous system might get affected adversely.
As this metabolic disorder is connected with the high levels of phenylalanine, the treatment involves lowering the levels of this amino acid. For that, one has to make sure that one’s diet doesn’t contribute in raising the levels of phenylalanine. If newborn screening indicates the absence of phenylalanine hydroxylase, the intake of dietary protein must be decreased. Phenylalanine is present in breast milk and formula, so you need to be careful while feeding your child. You can use PKU medical formula, a phenylalanine-free formula for your child as per the doctor’s advice.
Proteins are building blocks and a protein deficiency can adversely affect the growth of the child, therefore, proteins must not be completely excluded from the diet. As the child grows, foods that have lower amounts of phenylalanine can be introduced gradually. It is essential that the affected person follows a diet that provides all the necessary nutrients, while maintaining plasma phenylalanine concentrations that promote optimal growth, development, and mental functioning.
Foods to Avoid
Make sure that your child does not consume foods that are very rich in proteins. Foods such as beans, fish, legumes, eggs, beef, chicken, meat, soybeans, cheese, peas, nuts, cow’s milk, and dairy products must be avoided. Foods that contain artificial sweeteners must not be consumed at any cost.
Foods to Eat
Diet for PKU basically includes fruits, vegetables, and whole grains. One can also consume low protein breads and pasta. One must follow the diet plan recommended by the dietitian. Refrain from the consumption of processed foods. Instead of taking foods that contain aspartame or artificial sweeteners, one can use honey. It is definitely healthier and is also low in phenylalanine. Lemon juice and cilantro can also be used to add flavor.
If you have been diagnosed with PKU, make sure that you follow the dietary guidelines seriously. You must also get the phenylalanine levels monitored regularly. Though the treatment might involve the use of certain medications, the best way to control this metabolic genetic disorder is to follow the right diet plan. Following these dietary guidelines is the best way to prevent brain damage or intellectual disabilities, that might result due to high phenylalanine levels.
Disclaimer: The information provided in this article is solely for educating the reader. It is not intended to be a substitute for the advice of a medical expert.