Question 1

what is pku?

Accepted Answer

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.

Question 2

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

Accepted Answer

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.

Question 3

what is pku? & could adults wind up getting that ? or is that something only found in newborns ?

Accepted Answer

Error of metabolism: Phenylketonurea is an inborn error of metabolism.  Infants are born with it.  You  cannot get it as an adult.

Question 4

my doctor talked over my head. we are confused. what is pku?

Accepted Answer

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.

Question 5

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 6

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 7

what is the treatment for pku?

Accepted Answer

Diet: A diet low in phenylalanine.  You should consult a nutitionist well versed with the this diet.  The treatment is very essential in childhood and during pregnancy.

Question 8

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?

Accepted Answer

No: http://www.viacord.com/Images/HCNB_Panel_LSDs_121311_tcm117-151644.pdf
Link shows what Viacord screen tests for.  These are what we call inborn errors of metabolism.  Mostly enzymes that do not work properly leading to diseases. Think maple syrup urine disease, PKU, etc.  It does NOT screen for DMD but DOES screen for PKU. No current newborn screen for DMD, looking at CK levels in blood maybe help

Question 9

how id pku inherited?

Accepted Answer

Recessive: This means that the abnormal gene has to come from both parents who each have a single gene that makes them a genetic "carrier". This is more likely to occur when the parents are related as e.G 1st cousins. Although legal it is a risky union. We all have a chance of being a carier like this for many diseases. The disease will only occur if spouse has the same gene.

Question 10

what are symptoms of pku?

Accepted Answer

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.

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Doctor answers about:

What is PKU

A member asked:

What is pku?

A member asked:

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

A member asked:

What is pku? & could adults wind up getting that ? or is that something only found in newborns ?

A member asked:

My doctor talked over my head. we are confused. what is pku?

A member asked:

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

A member asked:

What is phenylketonuria (pku)?

A member asked:

What is the treatment for pku?

A member asked:

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?

A member asked:

How id pku inherited?

A member asked:

What are symptoms of pku?

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