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

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 3

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.

Question 4

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 5

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 6

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 7

what are the symptoms associated with pku?

Accepted Answer

Blond/slow/seizures: For babies born without newborn screening this is a significant risk. They have blonder hair than they should( metabolic thing), develop slowly and eventually have seizures and diminished intellect. State screening programs have been screening for this since the 1960's, and rarely miss a case.

Question 8

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 9

over time what happens to the person with pku?

Accepted Answer

Depends on treatment: The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired. If proteins containing phenylalanine are not avoided, pku can lead to intellectual disability by the end of the first year of life.
http://www.nlm.nih.gov/.

Question 10

how does pku impact the family and individual?

Accepted Answer

Many ways: PKU is an inherited recessive disorder where an individual does not make the enzyme needed to metabolize phenylalanine, an amino acid in protein.  Elevated levels in childhood cause developmental delays, but can be prevented with a special diet that should be continued lifetime to maintain mental abilities.  During pregnancy, elevated levels of pku can affect fetus.  See http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275

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