Question 1

what is the life expectancy of a baby with pku?

Accepted Answer

Quite awhile: If they follow the diet, children with pku can absolutely become healthy, productive adults. With discipline, this can be managed!

Question 2

is phenylketonuria treatable?

Accepted Answer

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.

Question 3

what are normal results for a phenylketonuria screen?

Accepted Answer

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 μmol/l (3–4 mg/dl). In healthy normal people, phenylalanine levels are usually below 120 μmol/l.

Question 4

what are some prenatal tests for phenylketonuria (pku)?

Accepted Answer

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.

Question 5

how can i lose weight with have pku (phenylketonuria) ?

Accepted Answer

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.

Question 6

what is the prognosis for phenylketonuria (pku) patients?

Accepted Answer

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.

Question 7

can someone go through 65 years of life normally not knowing that they have pku/hpa and then suddenly at 65 have an onset of symptoms?

Accepted Answer

Doubtful: There are variants of phenylalanine metabolism.This includes a malignant form that responds poorly to any form of rx, classical pku & those with benign hyper phenylanemia that never were affected.Classical untreated pku results in mental deficiency/seizures/and more by 5 years of age.I'm  not aware of followup data on those with benign hyper-phe into that age group.

Question 8

can you develops pku later in life?

Accepted Answer

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.

Question 9

what is phenylketonuria (pku)?

Accepted Answer

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 &amp; the phe level raises in the blood &amp; urine. Untreated it will cause brain damage, short stature &amp; seizures. Treatment includes avoiding phe containing foods, meds &amp; regular followup.

Question 10

how serious is phenylketonuria?

Accepted Answer

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.

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Doctor answers about:

Phenylketonuria life expectancy

A member asked:

What is the life expectancy of a baby with pku?

A member asked:

Is phenylketonuria treatable?

A member asked:

What are normal results for a phenylketonuria screen?

A member asked:

What are some prenatal tests for phenylketonuria (pku)?

A member asked:

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

A member asked:

What is the prognosis for phenylketonuria (pku) patients?

A member asked:

Can someone go through 65 years of life normally not knowing that they have pku/hpa and then suddenly at 65 have an onset of symptoms?

A member asked:

Can you develops pku later in life?

A member asked:

What is phenylketonuria (pku)?

A member asked:

How serious is phenylketonuria?

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