Phenylketonuria
Phenylketonuria, otherwise known as PKU, is a rare genetic condition that induces a buildup of a type of amino acid called phenylalanine. Because amino acids are the basis for proteins, phenylalanine is found in all proteins. The human body needs tyrosine, a type of amino acid, to form neurotransmitters like epinephrine or dopamine. To produce this the body uses the enzyme phenylalanine hydroxylase to develop into the tyrosine your body needs. When the phenylalanine hydroxylase gene has a deformity, Phenylketonuria is created. This deformity causes the body to not be able to break down the phenylalanine, creating the buildup.
Symptoms of PKU can include the following: seizures, tremors, stunted growth, hyperactivity, skin conditions, and a musty odor of the breath, skin, or urine. Because each case ranges in severity, not all diagnosis’ consist of these symptoms. This disease is usually tested for right after birth. The common practice of testing is to simply draw blood from a baby’s heel one to two days after birth. If something comes up in the results, further testing for a PAH gene mutation takes place within six weeks. Phenylketonuria is inherited from the parents. Both parents must pass on the gene for a child …show more content…
A person has to maintain a special diet and take medication to treat this disease. The most common way people treat PKU is avoiding food that contain phenylalanine. Newborns cannot feed on breast milk and require a special type of formula. Once the infant grows old enough to consume solid food, the following are prohibited from consumption: eggs, cheese, nuts, milk, beans, chicken, beef, pork, and fish. Most children still need to take a special formulation of specific amino acids that the body needs. Each case differs so a person with PKU usually works closely with a dietician to make sure the body is getting all necessary
Phenylketonuria, otherwise known as PKU, is a rare genetic condition that induces a buildup of a type of amino acid called phenylalanine. Because amino acids are the basis for proteins, phenylalanine is found in all proteins. The human body needs tyrosine, a type of amino acid, to form neurotransmitters like epinephrine or dopamine. To produce this the body uses the enzyme phenylalanine hydroxylase to develop into the tyrosine your body needs. When the phenylalanine hydroxylase gene has a deformity, Phenylketonuria is created. This deformity causes the body to not be able to break down the phenylalanine, creating the buildup.
Symptoms of PKU can include the following: seizures, tremors, stunted growth, hyperactivity, skin conditions, and a musty odor of the breath, skin, or urine. Because each case ranges in severity, not all diagnosis’ consist of these symptoms. This disease is usually tested for right after birth. The common practice of testing is to simply draw blood from a baby’s heel one to two days after birth. If something comes up in the results, further testing for a PAH gene mutation takes place within six weeks. Phenylketonuria is inherited from the parents. Both parents must pass on the gene for a child …show more content…
A person has to maintain a special diet and take medication to treat this disease. The most common way people treat PKU is avoiding food that contain phenylalanine. Newborns cannot feed on breast milk and require a special type of formula. Once the infant grows old enough to consume solid food, the following are prohibited from consumption: eggs, cheese, nuts, milk, beans, chicken, beef, pork, and fish. Most children still need to take a special formulation of specific amino acids that the body needs. Each case differs so a person with PKU usually works closely with a dietician to make sure the body is getting all necessary