Phenylketonuria

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    Phenylketonuria Disorder

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    Phenylketonuria (PKU) is a genetic disorder caused by a defect in the gene that helps create the enzyme phenylalanine hydroxylase. This enzyme helps to breakdown the amino acid phenylalanine; without this enzyme the levels of phenylketonuria (PKU) increases, this causes serious cognitive disabilities, hyperactivity, seizure, and abnormal small head (microcephaly) in infants, and small risk of brain damage.1 Phenylketonuria can affect pregnant women, babies, children and adults. Therefore, people who have the disease need to maintain a diet low in protein. Approximately 10,000 out of 15,000 babies are affected with phenylketonuria (PKU). This disease is more common in Irish, northern European, Turkish, or Native American people. Babies are test…

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    Phenylketonuria Case Study

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    Phenylketonuria is an autosomal recessive disorder and a common metabolic cause of mental retardation. This inborn error of metabolism is characterized by a deficiency in phenylalanine (Phe) hydroxylase activity, due to mutations in the Phe hydroxylase (PAH) gene. Phenylalanine hydroxylase is responsible for converting Phe to Tyr and requires the cofactor tetrahydrobiopterin (BH4), molecular oxygen, and iron for its action (Blau et al., 2010). The reductant, BH4 is maintained in the reduced…

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    Phenylketonuria Essay

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    Description: Phenylketonuria, also known as PKU, is a genetic disorder caused by the mutation of the PAH gene. The PAH gene is responsible for creating the enzyme phenylalanine hydroxylase. This enzyme breaks down the amino acid phenylalanine into tyrosine for the body. This mutation causes the PAH gene to not break down the phenylalanine and because so, dangerous and toxic levels of phenylalanine can build up in the blood, brain, and other organs and tissues. Without being able to digest…

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    Chromosomal Inheritance

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    Hemophilia is a genetic disorder, caused by a mutation, results in a person lacking a certain blood clotting factor. Essentially, hemophiliacs aren 't able to clot blood properly, which could lead to bleeding out and death. Normally, there is a 1 in 5000 chance for male births, while annually, 400 babies are born with hemophilia. It’s caused by a recessive gene that lies on the female X chromosome. Symptoms include excessive bleeding and bruising. This disorder is unique in that it’s commonly…

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    Phenylketonuria

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    Phenylketonuria (PKU) is a disorder that causes an amino acid called phenylalanine to build up in a person’s body. PKU is caused by a defect in the gene, the PAH gene, that helps to create the enzyme hydroxlase that is responsible for breaking down phenylalanine. Without this important enzyme, a person will build up a dangerously high level of phenylalanine when they eat foods that are high in protein. Babies in the United States are screened for PKU soon after birth. Newborns with PKU…

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    Children with autistic spectrum disorder (ASD) have increased their awareness when it comes to their early signs (Gray et al, 2008). Our understanding of children with autism has increased our understanding with major advances in pediatrics, child development, and developmental neurosciences (Gray et al, 2008). Phenylketonuria (PKU) is a type of disability that children have prevented in a neurodevelopment disorder (Gray et al, 2008). PKU is a type disability in children’s metabolism that they…

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    For our table clinic we decided to research Marden-Walker syndrome. Marden-Walker syndrome is a rare inherited connective tissue disorder (3). This disease involves the oral cavity, facial features and other body parts. This disorder has distinct facial features that can allow you to differientiate this disease from others. Marden-Walker syndrome is a very rare disease. It affects males more often then females (4). There have only been twenty reported cases of this disease (4). Specific…

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    Phenylketonuria Research

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    explores four published articles and four internet websites pertaining to Phenylketonuria. In this paper Phenylketonuria causative mutations, signs and symptoms along with treatment and long term prognosis are discussed to help individuals better understand Phenylketonuria and its effects on our population. Increasing public awareness towards Phenylketonuria can help lead to further research in hopes of medical advancements and encourage newborn screening in under developed countries.…

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    consisting in transforming food and/or other substances into energy. The food we eat is made up of various substances such as carbohydrates, proteins and fats. During the metabolism phase, those substances are breaking down into sugars and acids, storing in the body tissues, liver or other muscles and serve as fuel making it possible the functioning of our body. Metabolic disorder, in fact, takes place when abnormal chemical reactions in your body prevent that process from happening or…

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    Ectodermal Dysplasia Jonathan Moon American Fork Junior High A2 2/24/17 Abstract Ectodermal Dysplasia is a group of conditions that interfere with the normal functions of skin, hair, nails, teeth or sweat glands. These abnormalities cause various issues with everyday activities such as eating, brushing hair, exercising, and blinking. This paper will explain how this disease occurs, its symptoms, diagnosis, and treatment. Causes of ED Ectodermal Dysplasia, or ED, is a genetic disorder that…

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