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Doctor insights on: What Is 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. Sanjiv Kaul
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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Hi doctors, can you tell me what is pku's signs and symptoms?

Hi doctors, can you tell me what is pku's signs and symptoms?

Complete overview: This is a link to a complete overview of PKU, provided by the Mayo Clinic. http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275 This should tell you all you need to know. ...Read more

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What is PKU? & could adults wind up getting that ? Or is that something only found in newborns ?

What is PKU? & could adults wind up getting that ? Or is that something only found in newborns ?

PKU: Phenylketonuria is a condition in which your body can’t break down an amino acid, phenylalanine. It is inherited if both parents have the gene. We test newborns because if it is detected early, the effects can be avoided. If untreated, it causes seizures, mental retardation, devastating. It is not something acquired in adulthood. If healthy and normal intelligence, you do not have it. Be well! ...Read more

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My doctor talked over my head. We are confused. What is pku?

A rare disease: Pku stands for phenylketonuria, a rare disease in which a baby is born without the ability to properly break down a building block of protein called phenylalanine. People with pku have a build up of phenylalanine, which can cause brain damage. Dietary treatment of pku involves avoiding foods high in phenylalanine. A special infant formula called lofenalac is made for infants with pku. ...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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What is phenylketonuria (pku)?

What is phenylketonuria (pku)?

Gene mutation: When someone inherits a defective gene from two unaffected parents they can have pku. They can't make the enzyme phenyalanine (phe) hydroxylase.The dietary protein phe cannot be broken down & the phe level raises in the blood & urine. Untreated it will cause brain damage, short stature & seizures. Treatment includes avoiding phe containing foods, meds & regular followup. ...Read more

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What can a pku patient safely eat?

See below:: There is a long list of allowed and not allowed foods, consult this site: http://www.Mayoclinic.Com/health/phenylketonuria/ds00514/dsection=treatments-and-drugs. ...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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What is the treatment for pku?

What is the treatment for pku?

Prevention: For classic genetic autosomal recessive pku detected through newborn screening, the treatment is prevention by restricting dietary intake of phenylalanine for infants beginning in first week of life. Affected women also follow same diet restriction before/during pregnancy to protect the next embryo/fetus. Amino acid supplements also recommended, especially true in the bh4 deficiency varient. ...Read more

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I want to know what's the genetics for phenylketonuria (pku)?

I want to know what's the genetics for phenylketonuria (pku)?

Autosomal recessive: The gene defect is carried by both asymptomatic parents who have one normal gene to make up for their defective one. When 2 defective genes end up in their baby the cells do not have the code needed to use phenylalanine. Toxic products build up in babies blood unless phenylalanine is removed from their diet. ...Read more

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I want to know what's the genetic disorder called pku?

I want to know what's the genetic disorder called pku?

Phenylalanine (Phe): Your genes pass the code to your cells for making enzymes it needs to utilize dietary substances. Food must be broken down to usable parts ; recycled in each cell to become the building blocks of cell walls, muscle, etc.In pku a kid inherits a bad code from both asymptomatic parents ; doesn't make the phe enzyme. A buildup of phe becomes toxic, can cause brain damage and phe spills into the urine. ...Read more

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Was my infant screened for dechenne muscular dystrophy? Born in NY - does PKU test for this. Does Viacord screen test for DMD/PKU? What is the difference between the two?

Was my infant screened for dechenne muscular dystrophy? Born in NY - does PKU test for this. Does Viacord screen test for DMD/PKU?  What is the difference between the two?

No: Neither test screens for Duchenne muscular dystrophy. Below are links to the disorders covered by Viacord: http://www.viacord.com/Images/HCNB_Panel_LSDs_121311_tcm117-151644.pdf and NYS covers:http://www.wadsworth.org/programs/newborn/screening/screened-disorders. At this point, Duchenne Connect gives information about testing.: https://www.duchenneconnect.org/understanding-genetic-testing.html ...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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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?

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