PHENYLKETONURIA

What in the world is phenylketonuria?! First of all, I don't even know how to pronounce that gigantic complicated word and second of all I honestly have no clue what it is, but I was able to find out by doing a little research.  Well, phenylketonuria also known as PKU is a disease that is caused by a inherited disorder in the way our bodies process proteins.  The main villain in this disease is in the enzyme phenylalanine hydroxylase(PAH).  This enzyme is found in the liver and its job is to convert phenylalanine into another amino acid, tyrosine.  The phenylalanine builds up in the body to explicitly high levels.  This causes the body to go into a state called hyperphenylalaninaemia (may i mention that's a HUMONGOUS word!)  Anyways this state can be caused by other diseases besides PKU!  This can cause damage to your brain tissue.
Back in the day, before the smart people figured out what PKU was, children with the disease were generally placed in an institutional care place as a result of their severe mental retardation and many convulsions.  The better news about this is that if they were diagnosed early the effects of PKU can be reduced tremendously by removing phenylalanine from the diet of newborn babies.  This has lead to the bringing about of extensive screening programs in the UK and other countries.  The number of people suffering from the effects of PKU has lowered by a very large amount.  There has also been evidence spotted that hyperphenylalaninaemia in pregnant women with PKU may cause maternal phenylketonuria which results in symptoms in the child alike to those in PKU irrespective of the child's PKU status.

Children that may have PKU can have symptoms such as a smaller sized head, epilepsy, and mental retardation.  The abundant amount of phenylalanine creates a musty odor and the tyrosine deficiency causes lighter hair and skin.

Doctors diagnose patients by carrying out the Guthrie test.  The Guthrie test detects high levels of pheynylpyruvic acid in the blood during the first week of life.  Blood is taken from a small needle prick in the heel and dried on filter paper so that phenylalanine concentration can be measured.  Now pre-natal diagnosis is available and carried out by chorionic villus sampling, although it is not requested often as families tend not to view a positive test as cause for abortion.  PKU must be spotted fast so that treatment can begin within the first 20 days of life.  When carrying out the diagnosis it can also help to calculate the amount of protein ingested and a measure of plasma amino acids.  If there is a defect in biopterin metabolism the treatment will be different as a low phenylalanine diet is not helpful.

Treatments for PKU is usually a diet of low phenylalanine.  Newborns should be started on this diet if their blood phenylalanine levels are greater than 600 micro moles/liter.  They should also begin treatment if concentrations are between 400 and 600 micro moles/liter for their first few days of life.