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Doctor insights on: Phenylketonuria

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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

Dr. Daniel Saurborn
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 serious is phenylketonuria?

How serious is phenylketonuria?

Very: Untreated traditional PKU will eventually lead to brain damage, seizures and profound limitations in a persons life. Recognition and early treatment during the rapid development of infancy and childhood can help most lead a relatively normal life. Some variant forms are quite mild and require no treatment and others are so bad little will help.Offspring of affected females are at risk. ...Read more

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What exactly is phenylketonuria?

What exactly is phenylketonuria?

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 is the cause of phenylketonuria?

What is the cause of phenylketonuria?

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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Can anyone tell me about phenylketonuria 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.Removing phe from the diet allows normal growth. ...Read more

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What are the common symptoms of phenylketonuria?

What are the common symptoms of phenylketonuria?

Intellec. disability: Phenylketonuria (aka pku) is an inherited disorder that increases the levels of a phenylalanine (pa) in the blood. Pa is an amino acid, that is obtained through the diet. In untreated kids toxic level of pa can cause: permanent intellectual disability, seizures, delayed development, behavioral problems, and psychiatric disorders, musty (mouse-like) odor, light skin & hair, eczema. ...Read more

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What are some good recipes for someone with phenylketonuria (pku)?

What are some good recipes for someone with phenylketonuria (pku)?

Online: The childrens pku network has some links to other sites with menus/diets specific to kids with different metabolic needs. http://www.pkunetwork.org/childrens_pku_network/helpful_links.html. ...Read more

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How many different people in the u.S. Suffer from phenylketonuria (pku)?

About 15,000: It is estimated that there are about 14, 000 - 15, 000 people in the usa living with pku. Pku alliance (a patient organization) has excellent information on how common pku is and how it is screened. Here link for your convenience: http://www.Npkua.Org/education/aboutpku.Aspx. ...Read more

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What can people eat with phenylketonuria? Are they able to go to mcdonald's?

Likely geens. No.: Whether you are trying to be vegan or not, you muist avoid foods high in phenylalanine. These are foods like meat, chicken, fish, eggs, nuts, cheese, legumes, milk and other dairy products and starchy foods, like potatoes, bread, pasta, and corn, must be monitored. The sweetener aspartame, in many diet foods and soft drinks, must also be avoided. Leafy greens are likely ok. See dr. To be sure. ...Read more

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Does anyone know the percent of the u.S. Population affected with phenylketonuria (pku)?

1 in 15,000: Varies according to country. Usa 1 in 15, 000, finland and japan lowest with 1 in 100, 000, and 1 in 120, 00 births respectively. Caucasians 1 in 10, 000. ...Read more

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With phenylketonuria, how many people are expected to be heterozygota "carriers" for the disease?

With phenylketonuria, how many people are expected to be heterozygota "carriers" for the disease?

1:50 have one of : the many mutations of the PAH gene on Chromosome 12 that cause classical PKU. The prevalence of PKU is 1:10,000. PKU occurs when a child inherits a mutant PAH gene from both parents, in which case each subsequent child of theirs has a 25% chance of having PKU. See http://www.geneticseducation.nhs.uk/genetic-conditions-54/277-phenylketonuriapku ...Read more

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Is phenylketonuria treatable?

Is phenylketonuria treatable?

Very: It must be diagnosed early and treated by a highly-specialized diet with full compliance, to avoid massive brain damage. This is one area that you cannot manage yourself; thankfully, there are all sorts of resources available to you. The fact that you found us on healthtap says you're resourceful enough to do this. I'm glad -- and i wish you good luck. ...Read more

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What are normal results for a phenylketonuria screen?

What are normal results for a phenylketonuria screen?

Under 120 umol/L.: The pricipal test for screening for phenylketonuria is the guthrie test, which is used to screen newborns for phenylketonuria. The guthrie assay can detect serum phenylalanine levels of 180-240 ?mol/l (3–4 mg/dl). In healthy normal people, phenylalanine levels are usually below 120 ?mol/l. ...Read more

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What are some prenatal tests for phenylketonuria (pku)?

What are some prenatal tests for phenylketonuria (pku)?

New born testing: All new borns are tested for pku. There is no danger to the fetus, as long as mother does not have pku. Pre-natal testing is not indicated as treatment of the newborn prevents illeffects of pku. ...Read more

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How can I lose weight with have pku (phenylketonuria) ?

How can I lose weight with have pku (phenylketonuria) ?

No sugar substitute: Low protein and low carbohydrate diet is necessary. You must be very careful to avoid sugar substitutes. Find a good nutrition specialist who can help develop a diet plan for you. ...Read more

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What is the prognosis for phenylketonuria (pku) patients?

What is the prognosis for phenylketonuria (pku) patients?

Good if treated: Early and properly. There is risk of brain damage if a proper diet is not followed or if the diagnosis is delayed. See this site for more info. http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm. ...Read more

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Can phenylketonuria (pku) be a chromosomal mutation?

Can phenylketonuria (pku) be a chromosomal mutation?

Sort of: It may be a matter of terminology. Pku is a genetic disorder due to mutations in a gene. See this site for more info. http://www.mayoclinic.com/health/phenylketonuria/ds00514. ...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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Phenylketonuria: what's the morbidity and mortality of people who have the disease?

Slightly subnormal.: The lifespan and quality of life are slightly subnormal withy present treatment. Patients who are diagnosed early and maintain a strict diet can live a normal life span with normal mental development. However, recent research seems to show that neurocognitive, psychosocial, quality of life, growth, nutrition, bone pathology are slightly suboptimal. ...Read more