Phenylketonuria
Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental retardation and neurological problems. Most cases occur when this enzyme is deficient and the amount of phenylalanine is slightly higher than usual amount in the circulatory system of a person. This is called hyperphenylalaninemia.. These disorders are different than normal PKU.
(Shuett; McKusick)
PKU occurs immediately when a child is born. The child appears to be completely normal, but can have blue eyes and can have fairer skin and hair than the rest of its family members. If PKU is unidentified early in an infants life they can have early symptoms which can be identified. Half of untreated babies while develop symptoms such as vomiting, irritability, an eczema-like rash, and a mousy odor to their urine (Bellenir 69). They can also have nervous system problems. Increased muscle tone, and very active tendon reflexes occur from these problems. Soon after they start to undergo mental problems. These problems are severe mental retardation and seizures among other things. Other indicati...
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...-term problems for the child, but can make it difficult to get the child to recover from their illness.
(Gleason, Van Calcar)
Bibliography:
Works Cited Page
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McKusick, Victor A. “Phenylketonuria.” February, 2001. OMIM. April 17, 2001.
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· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene. Someone with familial dysautonomia has two copies of IKBKAP in each cell, which means a mutation occurred. This mutation disrupts the information in the IKBKAP gene that helps the production of IKAP protein. The IKAP protein is used for brain functions but when the mutation occurs, not enough of the proteins are made for the brain to function properly...
severe dysfunction," situations that can be found anywhere. The factor that can push a child over
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Krabbe Disease is a mutation of a gene called Galactocerebrosidase (GALC). A child can get this disease from receiving one copy of the defective gene from each parent. Without this gene, newborns can lose minimal to extreme mental function. The recommended treatment for loss of physiological function is umbilical cord blood stem cell transplant. To check if an infant has this disease, there are several standard screening tests that a newborn can take. It is important for parents to screen their children for Krabbe Disease as early as possible.
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Polycystic Kidney Disease, also known as PKD, is a common inherited gene disorder that causes the growth of cysts in the tissues of both the kidneys. The kidneys are a major organ in the excretory system; they remove wastes from the blood and form of urine. They filter the blood, keeping it clean of all wastes and have a number of other functions as well. Due to the growth of cysts on the kidneys it makes it hard to carry out these functions and the will eventually cause the kidneys to fail. This paper will discuss what PKD is, the many symptoms and treatments of PKD, and recent developments in research of this disease.
The signs and symptoms of PKU always very from mild to severe most of the time the severe case is found in infants who the infant appears perfectly normal until four to eight months or more down the road. With treatment being ignored the patient would show signs and symptoms of seizures, delayed development, behavioral problems, and psychiatric disorders these are the most sign and symptoms that are seen. Patients that go untreated will develop a musty or mouse like odor which is noted as a side effect of phenylalanine. Children with PKU show lighter skin and hair than those children who are not affected with PKU. A mutation found in the PAH gene that leads to formation of a nonfunctional ph...
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