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

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 3

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 4

how many people have pku in the world?

Accepted Answer

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

Question 5

how hard is it to test if you have pku?

Accepted Answer

Easy: Every newbnorn is tested for this in a state lab in the U.S.. If this was not reported at birth the person does not have pku.

Question 6

what is the definition or description of: pku?

Accepted Answer

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.

Question 7

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 8

what can a pku patient safely eat?

Accepted Answer

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.

Question 9

could patients with pku have children?

Accepted Answer

Yes: In fact, this is quite a big deal. If you are going to be a mother, you will need to manage your pku diet very carefully while you are pregnant, or the unborn child who actually does not have pku will still end up with permanent brain damage.

Question 10

what are the signs and symptoms of pku?

Accepted Answer

Varying signs: PKU detection test is mandatory newborn screening in the developed world, including all 50 states in the US. The early s/s of PKU include seizures, microcephaly ( small head) other developmental delays, eczema etc. tests should always be repeated within 2 wks to confirm diagnosis. Earlier intervention by phenyl alanine free diet can reverse most signs.

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Doctor answers about:

Life expectancy for pku

A member asked:

What is the life expectancy of a baby with pku?

A member asked:

Can you develops pku later in life?

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:

How many people have pku in the world?

A member asked:

How hard is it to test if you have pku?

A member asked:

What is the definition or description of: pku?

A member asked:

What is phenylketonuria (pku)?

A member asked:

What can a pku patient safely eat?

A member asked:

Could patients with pku have children?

A member asked:

What are the signs and symptoms of pku?

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