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Doctor insights on: Interesting Facts About Pku

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What is pku?

What is pku?

Phenylketonuria: It is an inherited metabolic disorder which if left untreated causes mental retardation in affected children. All states have programs to screen newborns for pku as it can be treated with a diet low in phenylalanine, an amino acid. ...Read more

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Dr. Clarence Grim
73 Doctors shared insights

Pku (Definition)

It is a congenital deficiency of an enzyme which digests a protein in milk causing a build-up of a substance that causes brain damage in infants. This disorder is tested for in all newborns and a special formula ...Read more


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How id pku inherited?

How id pku inherited?

Recessive gene trait: We each have pairs of any specific gene & these reside on the chromosome passed from the respective parent. When a defective gene comes from one parent, but not the other, the normal gene can keep up with the bodies needs. (no PKU) If both parents pass the bad gene, no work is done & PKU develops. If one defective gene produced the problem it would be called a "dominant" gene or inheritance ...Read more

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What are symptoms of pku?

What are symptoms of pku?

Mental retardation: Infants with the condition often have lighter skin, hair, and eyes than siblings
other symptoms may include: delayed mental and social skills, head size significantly below normal, hyperactivity, jerking movements of the arms or legs, mental retardation, seizures, skin rashes, tremors, unusual positioning of hands.
For additional information consult: http://www. Ncbi. Nlm. Nih. Gov/pubmedhealth/pmh000. ...Read more

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Can you develops pku later in life?

Can you develops pku later in life?

Not possible: PKU is not a disease you can get. It is based on mistakes in the genes where the protein cannot be metabolized properly. Your body gets 2 copies of the gene, if one is defective, the other can do the work, but if you are born with 2 defective genes you have the problem at birth. Once you start consuming protein, your metabolism can't process the phenylalanine. ...Read more

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Can you develops pku later in life?

Can you develops pku later in life?

No: PKU is a genetic disease that you are born with. Newborn screening helps to diagnose this disease and guides the treatment. Having it diagnosed later in life leads to more problems. A special diet low in phenylalanine is the treatment. During pregnancy it is particularly important. ...Read more

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How many people have pku in the world?

How many people have pku in the world?

Phenylketonuria-PKU: "Classical PKU affects between 1 in 10, 000 and 1 in 20, 000 depending on the country of origin. The incidence varies widely in different human populations from 1 in 4, 500 births among the population of Ireland[3] to fewer than one in 100, 000 births among the population of Finland." from website National PKU Alliance https://npkua. Org/Education/About-PKU ...Read more

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How hard is it to test if you have pku?

How hard is it to test if you have pku?

Simple blood test: The test for PKU is a simple blood test. Testing for PKU is part of the screen done for metabolic disorders. ...Read more

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What are the symptoms associated with pku?

Nental retrardation: All infants in the U.S. Are tested for this at birth. The only way to prevent menat retardation is by special diet. ...Read more

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Over time what happens to the person with pku?

Over time what happens to the person with pku?

Depends on treatment: The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired. If proteins containing phenylalanine are not avoided, pku can lead to intellectual disability by the end of the first year of life.
http://www. Nlm. Nih. Gov/. ...Read more

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How does pku Impact the family and individual?

How does pku Impact the family and individual?

Many ways: PKU is an inherited recessive disorder where an individual does not make the enzyme needed to metabolize phenylalanine, an amino acid in protein. Elevated levels in childhood cause developmental delays, but can be prevented with a special diet that should be continued lifetime to maintain mental abilities. During pregnancy, elevated levels of pku can affect fetus. See http://www. Mayoclinic. Org/diseases-conditions/phenylketonuria/basics/definition/con-20026275 ...Read more

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What is the definition or description of: PKU?

Genetic disorder: It is a congenital deficiency of an enzyme which digests a protein in milk causing a build-up of a substance that causes brain damage in infants.
This disorder is tested for in all newborns and a special formula can prevent brain damage. ...Read more

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Can you tell me about pku and the deffrent levels?

PKU: This is a nice explanation, without a lot of complicated biochemistry. Http://www. Marchofdimes. Com/baby/phenylketonuria-in-your-baby. Aspx ...Read more

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What foods should you avoid if you are diagnosed with pku?

Proteins: Most meats, chicken, fish, beef, turkey, bacon, milk and dairy, soy, most legumes aspartame sweetener all are too high in phenylalanine for pku sufferers. ...Read more

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Can an individual with pku stop following the special diet ever?

Can an individual with pku stop following the special diet ever?

No: This is a requirement to maitain health. Elevated levels cause harm at any age. ...Read more

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What are some good foods for someone with a restricted diet due to pku?

What are some good foods for someone with a restricted diet due to pku?

Vegetables are OK: Phenylketonuria is treated with a low phenylalanine diet, which means most proteins are verbotten. But people with pku need expert guidance from a metabolic dietician and biochemical geneticist to do it right. Too much protein restriction can be just as bad. You need to have your phenylalanine blood levels checked regularly. If you are a woman of childbearing age, you have to be even more careful. ...Read more

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I can't find anything good online to cook for pku kid, so any suggestions?

Low protein: A person with pku is unable to handle phenylalanine, a component of proteins. As such, any diet needs to restrict the amount of protein. Several sites appear to be available on-line; here is one: http://www. Ehow. Com/how_2047875_follow-pku-diet. Html. I would also suggest working withe a nutritionist for guidance. ...Read more

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What is a pku done on the babay and what happens if it comes back abnormal?

Newborn screening: Pku is a label often applied to the newborn screening program that has gone on for the last 50 years or so in some form throughout the states. Any + for any of the tests (~34 in texas)requires that a specific confirmatory test be done to see if the screening was a false + or a real problem. I usually hear about a + screen a week after the test & bring in the kid for testing & discussion. ...Read more

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Can an individual with pku stop following the special diet when he is older?

Can an individual with pku stop following the special diet when he is older?

Depends: Although the guidance 30 years ago often loosened strict dietary restrictions as early as 5-6yr, later work has shown the negative effects of this on personal performance throughout life. Women have additional burdens as their pku can cause brain injury and malformations in her baby if she is not on a strict diet for months before conception & throughout pregnancy. Stop & u will pay a price. ...Read more

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I'm too small only 93 lbs will ensure pkus help?

I'm too small only 93 lbs will ensure pkus help?

Nutritionist help: I'm not sure if you mean height vs. Weight, but if you are thinking you're too thin, i'd consult with a nutritionalist to determine first if that's true, and what you can do about it if anything. If you are genetically predetermined to be thin, then extra calories will add to cardiovascular risk. There is nothing you can do about height so there's no issue there. ...Read more