phenylketonuria definition
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- Phenylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.henylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
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Conditions Classic Phenylketonuria Phenylketonuria (PKU) is a condition in which the body cannot break down one of the amino acids found in proteins. PKU is considered an amino acid condition because people with PKU cannot break down the amino acid called phenylalanine. If left untreated, PKU can cause brain damage or even death.However, if the condition is detected early and treatment is begun, individuals with PKU can lead healthy lives.KU is considered an amino acid condition because people with PKU cannot break down the amino acid called phenylalanine. If left untreated, PKU can cause brain damage or even death. However, if the condition is detected early and treatment is begun, individuals with PKU can lead healthy lives.
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- Phenylketonuria (PKU), or phenylalanine hydroxylase (PAH) deficiency, is a lifelong, inborn error of metabolism that causes an amino acid, known as phenylalanine (Phe) to build up in the blood.
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- Phenylketonuria (PKU) is a rare genetic condition in which the body cannot break down the essential amino acid phenylalanine. Amino acids are the building blocks of protein.
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- Medical Definition of PHENYLALANINE. : an essential amino acid C9H11NO2 that is obtained in its levorotatory L-form by the hydrolysis of proteins (as lactalbumin), that is essential in human nutrition, and that is converted in the normal body to tyrosine—abbreviation Phe; see phenylketonuria, phenylpyruvic acid.
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Phenylketonuria Phenylketonuria (PKU) is characterized by a person's inability to metabolize the amino acid phenylalanine.If the body can not process part of the protien phenylalanine (phe) then it can cause severe brain damage, skin disorders, behavioral problems, heart defects or even mental retardation.enetic Testing. The phenylalanine tolerance test is one form of genetic testing for PKU. It is performed by giving a person a measured amount of phenylalanine and the concentration of phenylalanine in the blood plasma is measured.
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Phenylketonuria Phenylketonuria (PKU) is characterized by a person's inability to metabolize the amino acid phenylalanine.If the body can not process part of the protien phenylalanine (phe) then it can cause severe brain damage, skin disorders, behavioral problems, heart defects or even mental retardation.henylketonuria (PKU) is located in the q arm of chromosome 12. It is caused by a mutation of the (PAH) phenylalanine hydroxylase gene. The (PAH) gene produces the enzyme phenylalanine hydroxylase and it then converts the phenylalanine to tyrosine.
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Phenylketonuria Phenylketonuria (PKU) is an inborn error of metabolism involving impaired metabolism of phenylalanine, one of the amino acids. Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems.henylketonuria (PKU) is an inborn error of metabolism involving impaired metabolism of phenylalanine, one of the amino acids. Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems.
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Phenylketonuria Classic PKU dramatically affects myelination and white matter tracts in untreated infants; this may be one major cause of neurological disorders associated with phenylketonuria. Differences in white matter development are observable with magnetic resonance imaging.
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- Guthrie test: A simple screening blood test for phenylketonuria (PKU). The Guthrie test was the original impetus to newborn metabolic screening. In 1958-59 Dr. Robert Guthrie (1916-95) was asked if he might to develop a simple method to monitor the blood phenylalanine (phe) level. He developed a test in 3 days. It was a bacterial inhibition assay..
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Phenylketonuria Phenylketonuria (PKU) Phenylketonuria (PKU) is an inborn error of metabolism involving impaired metabolism of phenylalanine, one of the amino acids. Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems.
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phenylketonuria Definition. Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH).bbr. PKU A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products.
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- Phenylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
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Conditions Classic Phenylketonuria Phenylketonuria (PKU) is a condition in which the body cannot break down one of the amino acids found in proteins. PKU is considered an amino acid condition because people with PKU cannot break down the amino acid called phenylalanine. If left untreated, PKU can cause brain damage or even death.ther enzymes break down these amino acids. In classic phenylketonuria (PKU), the enzyme phenylalanine hydroxylase (PAH) is not working correctly. PAH’s job is to break down the amino acid phenylalanine.
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Pku Definition. Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH).
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Phenylketonuria Definition. Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH).
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Learning About Phenylketonuria (PKU) Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine comes from a person's diet and is used by the body to make proteins. Phenylalanine is found in all food proteins and in some artificial sweeteners.
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Ketonuria Ketonuria is a medical condition in which ketone bodies are present in the urine. It is seen in conditions in which the body produces excess ketones as an indication that it is using an alternative source of energy. It is seen during starvation or more commonly in type I diabetes mellitus.etonuria is a medical condition in which ketone bodies are present in the urine. It is seen in conditions in which the body produces excess ketones as an indication that it is using an alternative source of energy. It is seen during starvation or more commonly in type I diabetes mellitus.
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Ketonuria Ketonuria is a medical condition in which ketone bodies are present in the urine. It is seen in conditions in which the body produces excess ketones as an indication that it is using an alternative source of energy. It is seen during starvation or more commonly in type I diabetes mellitus.n a diabetic patient, ketone bodies in the urine suggest that the patient is not adequately controlled and that adjustments of medication, diet, or both should be made promptly. In the non diabetic patient, ketonuria reflects a reduced carbohydrate metabolism and an increased fat metabolism.
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- Phenylketonuria (PKU) is an inherited disease that affects the breakdown of protein. High levels of the amino acid phenylalanine in the blood damage the nervous system and can also lead to mental handicap. Newborn babies with PKU are given a special diet low in phenylalanine.epending on the level of phenylalanine and tolerance for phenylalanine in the diet, PKU is classified into two different types: classic, which is the severe form, and moderate. Therefore, each patient needs an individualized treatment plan.
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Phenylketonuria (PKU) Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood.Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet.It is found in all proteins and in some artificial sweeteners.lassic PKU, the most severe form of the disorder, occurs when phenylalanine hydroxylase activity is severely reduced or absent. People with untreated classic PKU have levels of phenylalanine high enough to cause severe brain damage and other serious medical problems.
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- The labels are used as qualifiers, either for endpoints or for each single scale point. Verbal labelling provides practical advantages, such as ease-of-explanation and familiarity, and facilitates capturing normative judgments. The main disadvantages are inferior measurement quality and proneness to cultural biases.
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Phenylketonuria (PKU) Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. Phenylalanine is found in all proteins and some artificial sweeteners.
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- Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh), often called PKU, is an inherited disorder that that can cause intellectual and developmental disabilities (IDDs) if not treated. In PKU, the body can't process a portion of a protein called phenylalanine, which is in all foods containing protein.epending on the level of phenylalanine and tolerance for phenylalanine in the diet, PKU is classified into two different types: classic, which is the severe form, and moderate. Therefore, each patient needs an individualized treatment plan.