Pku sentence example

pku
  • Classical PKU is caused by a deficiency of the liver enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine to tyrosine.
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  • The classic example of this is in the disorder called phenylketonuria (PKU ).
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  • However, it is important to note that infants suffering from the rare genetic disease phenylketonuria (PKU) should not consume aspartame.
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  • Single gene defects such as phenylketonuria (PKU) and other inborn errors of metabolism may also cause mental retardation if they are not found and treated early.
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  • Conditions such as hyperthyroidism and PKU are treatable.
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  • Newborn screening and immediate treatment for PKU and hyperthyroidism can usually catch these disorders early enough to prevent retardation.
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  • Phenylketonuria (PKU)-A rare, inherited, metabolic disorder in which the enzyme necessary to break down and use phenylalanine, an amino acid necessary for normal growth and development, is lacking.
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  • Women with diabetes and phenylketonuria (an inherited liver condition also called PKU) are at higher risk of having children with congenital heart defects.
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  • 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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  • The primary symptom of untreated PKU, mental retardation, is the result of consuming foods that contain the amino acid phenylalanine, which is toxic to brain tissue.
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  • As of 2004, PKU was incurable, but early, effective treatment can prevent the development of serious mental incapacity.
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  • Above normal levels of phenylalanine are toxic to the cells that make up the nervous system and cause irreversible abnormalities in brain structure and function in PKU patients.
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  • In untreated PKU patients, abnormally high phenylalanine levels in the blood and brain can produce nerve cells with deformed axons and dendrites and cause imperfections in the myelin sheath referred to as hypomyelination and demylenation.
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  • Some research suggests that nerve cells of PKU patients also have difficulty absorbing tyrosine.
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  • This abnormality may explain why many PKU patients who receive sufficient dietary tyrosine still experience some form of learning disability.
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  • The IQ of PKU patients is generally lower than the IQ of their healthy peers.
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  • Students with PKU often find academic tasks difficult and must struggle harder to succeed than their non-PKU peers.
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  • Ten years of age seems to be an important milestone for PKU patients.
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  • People with PKU tend to avoid contact with others, appear anxious, and show signs of depression.
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  • It is also interesting to note that people with PKU are less likely to display such antisocial behaviors as lying, teasing, and active disobedience.
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  • One in 50 individuals in the United States has inherited a gene for PKU.
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  • About 5 million Americans are PKU carriers.
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  • The PAH gene and its PKU mutations are found on chromosome 12 in the human genome.
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  • In more detail, PKU mutations can involve many different types of changes, such as deletions and insertions, in the DNA of the gene that codes for the PAH enzyme.
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  • The term autosomal means that the gene for PKU is not located on either the X or Y sex chromosome.
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  • The normal PAH gene is dominant to recessive PKU mutations.
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  • A recessive genetic trait, such as PKU, is one that is expressed-or shows up-only when two copies are inherited (one from each parent).
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  • A person with one normal and one PKU gene is called a carrier.
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  • However, PKU carriers can pass the PKU genetic mutation on to their children.
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  • Two carrier parents have a 25 percent chance of producing a baby with PKU symptoms, and a 50 percent chance having a baby that is a carrier for the disease.
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  • Although PKU conforms to these basic genetic patterns of inheritance, the actual expression, or phenotype, of the disease is not strictly an either/or situation.
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  • This is because there are at least 400 different types of PKU mutations.
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  • Although some PKU mutations cause rather mild forms of the disease, others can initiate much more severe symptoms in untreated individuals.
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  • Untreated PKU patients develop a broad range of symptoms related to severely impaired cognitive function, sometimes referred to as mental retardation.
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  • Melanin is made from the amino acid tyrosine, which is lacking in untreated cases of PKU.
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  • Physiologically, PKU patients show high levels of phenylalanine and low levels of tyrosine in the blood.
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  • However, typical PKU symptoms usually do show up by a baby's first birthday.
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  • The primary diagnostic test for PKU is the measurement of phenylalanine levels in a drop of blood taken from the heel of a newborn baby's foot.
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  • In this test, PKU is confirmed by the appearance of bacteria growing around high concentrations of phenylalanine in the blood spot.
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  • It ensures early the treatment PKU babies need to develop normally and avoid the ravages of PKU.
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  • If the initial PKU test produces a positive result, then follow-up tests are performed to confirm the diagnosis and to determine if the elevated phenylalanine levels may be caused by some medical condition other than PKU.
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  • Treatment for PKU is recommended for babies that show a blood phenylalanine level of 7 to 10 mg/dL or higher for more than a few consecutive days.
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  • Another, more accurate test procedure for PKU measures the ratio (comparison) of the amount of phenylalanine to the amount of tyrosine in the blood.
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  • Subsequent diagnostic procedures (called mutation analysis and genotype determination) can actually identify the specific types of PAH gene mutations inherited by PKU infants.
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  • This information can help doctors develop more effective customized treatment plans for each of their PKU patients.
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  • The severity of the PKU symptoms experienced by people with this disease is determined by both lifestyle and genetic factors.
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  • In the early 1950s, researchers first demonstrated that phenylalanine-restricted diets could eliminate most of the typical PKU symptoms-except for mental retardation.
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  • As of 2004, dietary therapy (also called nutrition therapy) is the most common form of treatment for PKU patients.
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  • By comparison, untreated PKU patients generally have IQ scores below 50.
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  • Infants with PKU should be put on a specialized diet as soon as they are diagnosed to avoid progressive brain damage and other problems caused by an accumulation of phenylalanine in the body.
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  • A PKU diet helps patients maintain very low blood levels of phenylalanine by restricting the intake of natural foods that contain this amino acid.
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  • Even breast milk is a problem for PKU babies.
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  • Special PKU dietary mixtures or formulas are usually obtained from medical clinics or pharmacies.
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  • Typical diets prescribed for PKU patients provide very small amounts of phenylalanine and higher quantities of other amino acids, including tyrosine.
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  • In addition, PKU diets include all the nutrients normally required for good health and normal growth, such as carbohydrates, fats, vitamins, and minerals.
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  • High protein foods such as meat, fish, chicken, eggs, nuts, beans, milk, and other dairy products are banned from PKU diets.
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  • Sugar-free foods, such as diet soda, which contain the artificial sweetener aspartame, are also prohibited foods for PKU patients because aspartame contains the amino acid phenylalanine.
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  • Ideally, school-age children with PKU should be taught to assume responsibility for managing their diets, recording food intake, and for performing simple blood tests to monitor their phenylalanine levels.
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  • The amount of natural foods allowed in a diet can be adjusted to ensure that the level of phenylalanine in the blood is kept within a safe range-2 to 6 mg/dL before 12 years of age and 2 to 15 mg/dL for PKU patients over 12 years old.
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  • A specialized PKU diet can cause abnormal fluctuations in tyrosine levels throughout the day.
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  • It should be noted that some PKU patients show signs of learning disabilities even with a special diet containing extra tyrosine.
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  • Research studies suggests that these PKU patients may not be able to process tyrosine normally.
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  • For PKU caregivers, providing a diet that is appealing as well as healthy and nutritious is a constant challenge.
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  • Many PKU patients, especially teenagers, find it difficult to stick to the relatively bland PKU diet for extended periods of time.
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  • Many PKU health professionals contend that all PKU patients should adhere to a strictly controlled diet for life.
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  • One promising line of PKU research involves the synthesis (manufacturing) of a new type of enzyme that can break down phenylalanine in food consumed by the patient.
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  • They have highlighted the urgent need for consistent international standards for proper management of PKU patients, which should emphasize comprehensive psychological as well as physiological monitoring and assessment.
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  • Women with PKU must be especially careful with their diets if they want to have children.
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  • This condition is referred to as maternal PKU and can even affect babies who do not have the PKU disease.
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  • Early newborn screening, careful monitoring, and life-long strict dietary management can help PKU patients to live normal, healthy, and long lives.
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  • People with phenylketonuria (PKU) should consult a physician before taking this medicine.
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  • Hypothyroidism and phenylketonuria (PKU) are two common metabolic conditions that may be present at birth.
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  • Women who are at risk of phenylketonuria (PKU) should not take aspartame because it can increase the amount of the amino acid phenylalanine, which can harm the developing baby.
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  • Several dangers of phenylalanine supplements should be noted, especially for people with a genetic disorder called phenylketonuria (PKU).
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  • Phenylalanine is of course dangerous to people with the inherited genetic condition called PKU, but it's also dangerous for people who have unrecognized mood disorders masquerading as depression.
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  • You can't "catch" PKU and it doesn't develop over time; all newborn babies in the United States are tested immediately to see if they have this disorder.
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  • Both parent must carry and pass on the defective gene for a baby to have PKU.
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  • Avoiding all high-protein foods is a start, but those with PKU must also avoid foods with artificial sweeteners such as aspartame.
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  • If you have PKU, you should also be aware that some over-the-counter medications contain phenylalanine.
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  • For those who do not suffer from PKU, phenylalanine has been looked at for treating certain health issues.
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  • Those with PKU should not take phenylalanine in any form.
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