Phenylketonuria
Phenylketonuria
Phenylketonuria is described as a metabolic genetic disorder. This disorder is characterized by the lack of production of the enzyme phenylalanine hydroxylase. This enzyme is used to break down the amino acid phenylalanine into tyrosine. Without this enzyme, the body cannot break down and waster phenylalanine, therefore it accumulates in the bloodstream. This accumulation of phenylalanine in the blood can spread to the brain and create a toxic effect. This paper is to describe, in detail, some of the pathophysiological facts of phenylketonuria.
Phenylketonuria is a genetic disorder, so it is spread through genes. This disorder is described as an autosomal recessive disorder. This means that two copies of the abnormal gene must be present for the disorder to manifest. If a person has only one mutated gene, this means that the person is a carrier of the gene and could pass it on to their children. If both parents carry the gene, this means that their offspring have a 1 in 4 chance of having the disorder, and a 1 in 2 chance. This means that if the mother has the mutated gene and the father has the mutated gene, their offspring has 25% chance of having the disorder and a 50% chance of passing the mutated gene on and making their offspring a carrier. According to the National PKU Alliance, approximately 1 in every 50 people are carriers of the mutated gene that causes phenylketonuria, and phenylketonuria affects approximately 1 out of every 10,000 to 1 out of every 20,000 depending upon the country of origin. For some reason, this disorder also affects more Caucasians and Orientals than African Americans, but it doesn 't appear to have more prevalence in either gender. The higher incidences of the disorder are found in the United States, Poland, and the Czech Republic. The National PKU Alliance also reports that there are approximately
14,500 people living in the United States with phenylketonuria. If a family has instances of phenylketonuria in
Phenylketonuria is described as a metabolic genetic disorder. This disorder is characterized by the lack of production of the enzyme phenylalanine hydroxylase. This enzyme is used to break down the amino acid phenylalanine into tyrosine. Without this enzyme, the body cannot break down and waster phenylalanine, therefore it accumulates in the bloodstream. This accumulation of phenylalanine in the blood can spread to the brain and create a toxic effect. This paper is to describe, in detail, some of the pathophysiological facts of phenylketonuria.
Phenylketonuria is a genetic disorder, so it is spread through genes. This disorder is described as an autosomal recessive disorder. This means that two copies of the abnormal gene must be present for the disorder to manifest. If a person has only one mutated gene, this means that the person is a carrier of the gene and could pass it on to their children. If both parents carry the gene, this means that their offspring have a 1 in 4 chance of having the disorder, and a 1 in 2 chance. This means that if the mother has the mutated gene and the father has the mutated gene, their offspring has 25% chance of having the disorder and a 50% chance of passing the mutated gene on and making their offspring a carrier. According to the National PKU Alliance, approximately 1 in every 50 people are carriers of the mutated gene that causes phenylketonuria, and phenylketonuria affects approximately 1 out of every 10,000 to 1 out of every 20,000 depending upon the country of origin. For some reason, this disorder also affects more Caucasians and Orientals than African Americans, but it doesn 't appear to have more prevalence in either gender. The higher incidences of the disorder are found in the United States, Poland, and the Czech Republic. The National PKU Alliance also reports that there are approximately
14,500 people living in the United States with phenylketonuria. If a family has instances of phenylketonuria in
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