Question 1

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

Accepted Answer

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.

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

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 4

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 5

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 6

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.

Question 7

can anyone tell me about phenylketonuria pku?

Accepted Answer

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.

Question 8

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 9

why must there be phenylalanine in the pku diet?

Accepted Answer

Essential amino acid: We can not make our own phenylalanine so there must be some in our diet. In general, the idea is to consume only the amount of phenylalanine that's necessary for normal growth and body processes, but no more.

Question 10

please suggest what type of mutation occurs in pku?

Accepted Answer

PKU is inherited by : autosomal recessive transmission. Both parents carry a mutation of a gene on the long arm of Chromosome 12, causing deficiency of the enzyme phenylalanine hydroxylase in a child who inherits both mutant genes. The child is unable to use an amino acid called Phenylanine. Excess Phenylalanine from dietary protein is toxic to the brain.See http://www.npkua.org/Education/AboutPKU.aspx

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Pku gel powder medication

A member asked:

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

A member asked:

Can you develops pku later in life?

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?

A member asked:

Can anyone tell me about phenylketonuria pku?

A member asked:

What is the life expectancy of a baby with pku?

A member asked:

Why must there be phenylalanine in the pku diet?

A member asked:

Please suggest what type of mutation occurs in pku?

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