When you hear the Phenylketonuria, what do you think? Is it that you have never heard that word be used before? It could just be that you think it can be a very harmful disorder to the human body. There are many questions that are asked about Phenylketonuria (PKU), and many of those can be answered easily. PKU is a birth defect that causes an amino acid to build up in your body. This defect/disorder can be treated in a multitude of different methods. If it is left untreated it can lead to severe consequences. Usually there are many different causes for disorders, but PKU can only be caused by one thing.
Phenylketonuria is an inherited disorder that is detected at birth. It is required that any newborn in all 50 states for the US to get screened for PKU within a few days of birth. The severity of PKU can range from very mild to very severe in rare cases. The only cause is if both parents of the child with the disorder has a defective gene. This is the Phenylalanine hydroxylase(PAH) gene. The PAH gene used to make an enzyme called Phenylalanine hydroxylase, which is then used to break down an amino acid called Phenylalanine. The genes way of breaking down phenylalanine is to convert the original amino acid into a new(nonessential) amino acid called Tyrosine. Tyrosine then allows the blood flow to then be constant and nothing happens. If the PAH gene is defective/mutated then it causes the amino acid(usually is good for your body) to build in his/her blood stream. There are more than 500 known mutations that can cause the disorder PKU, but one of the most common is when a single amino acid is changed in the enzyme made by the PAH gene. The amino acid changed is called arginine, then replaced with the new amino acid tryptophan at position 408 in the enzyme. This disorder can be very severe to the individual in many cases. With less than 22,000 the disorder is labelled as very rare. …show more content…
One of the most severe cases of PKU is known as,”Classic PKU”. This form of PKU is caused when the mutation of the PAH gene causes the creation of the enzyme Phenylalanine hydroxylase is reduced exponentially to almost nothing. In this case when left untreated can have very severe outcomes. In untreated cases of Pku, the individual with the disorder can gain brain damage. As well as have many different intellectual disabilities. They child might even have seizures related to having PKU. When someone has PKU they will have to live with eating a special diet, to make sure that they dont intake excess amount of phenylalanine. In many extreme cases of the disorder the person is not capable of creating Phenylalanine Hydroxylase, making it so they aren't able to intake any food product including the amino acid, to prevent any further symptoms from appearing. Many symptoms appear in a person that has this special disorder. These symptoms include:” Intellectual disability, delayed development, Behavior, emotional, and social problems, psychiatric disorders, neurological problems, hyperactivity, poor bone strength, skin rashes, etc.”(Mayo Clinic Staff, symptoms of PKU). All symptoms can be prevented by maintaining special treatments throughout his/her life. Many treatments can just be done at home as well as by seeking professional help. When an individual inherits this disorder they will have to live with having to eat a certain
Phenylketonuria is an inherited disorder that is detected at birth. It is required that any newborn in all 50 states for the US to get screened for PKU within a few days of birth. The severity of PKU can range from very mild to very severe in rare cases. The only cause is if both parents of the child with the disorder has a defective gene. This is the Phenylalanine hydroxylase(PAH) gene. The PAH gene used to make an enzyme called Phenylalanine hydroxylase, which is then used to break down an amino acid called Phenylalanine. The genes way of breaking down phenylalanine is to convert the original amino acid into a new(nonessential) amino acid called Tyrosine. Tyrosine then allows the blood flow to then be constant and nothing happens. If the PAH gene is defective/mutated then it causes the amino acid(usually is good for your body) to build in his/her blood stream. There are more than 500 known mutations that can cause the disorder PKU, but one of the most common is when a single amino acid is changed in the enzyme made by the PAH gene. The amino acid changed is called arginine, then replaced with the new amino acid tryptophan at position 408 in the enzyme. This disorder can be very severe to the individual in many cases. With less than 22,000 the disorder is labelled as very rare. …show more content…
One of the most severe cases of PKU is known as,”Classic PKU”. This form of PKU is caused when the mutation of the PAH gene causes the creation of the enzyme Phenylalanine hydroxylase is reduced exponentially to almost nothing. In this case when left untreated can have very severe outcomes. In untreated cases of Pku, the individual with the disorder can gain brain damage. As well as have many different intellectual disabilities. They child might even have seizures related to having PKU. When someone has PKU they will have to live with eating a special diet, to make sure that they dont intake excess amount of phenylalanine. In many extreme cases of the disorder the person is not capable of creating Phenylalanine Hydroxylase, making it so they aren't able to intake any food product including the amino acid, to prevent any further symptoms from appearing. Many symptoms appear in a person that has this special disorder. These symptoms include:” Intellectual disability, delayed development, Behavior, emotional, and social problems, psychiatric disorders, neurological problems, hyperactivity, poor bone strength, skin rashes, etc.”(Mayo Clinic Staff, symptoms of PKU). All symptoms can be prevented by maintaining special treatments throughout his/her life. Many treatments can just be done at home as well as by seeking professional help. When an individual inherits this disorder they will have to live with having to eat a certain