Phenylketonuria!!!! Umm... What a WORD!!!

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     Phenylketonuria, now that is a mouth full and frankly phenylketonuria is a word I have never heard of. (until today!!!)  I'm not exactly sure how to say this disease either, but I know one thing for sure it is abbreviated with the letters PKU!!! So you know what they say when you don't know something look it up and that's what I have just done. RESEARCH TIME!!!

Phenylketonuria Defined:
     Phenylketonuria (PKU) is a genetic disorder that is the body's inability to utilize the essential amino acids the body requires. The body is unable to process the amino acids which are basic building block for all body proteins. The essential amino acids our bodies require can only be obtained from the food we consume. In classic PKU the enzyme that breaks down phenylalanine hydroxylase, is completely or nearly completely deficient. This enzyme normally converts phenylalanine to another amino acid, known as tyrosine. Without this enzyme, phenylalanine and the chemicals it uses to break food down accumulates in the other enzyme routes in blood and body tissues. Hyperphenylalaninemia means elevated blood phenylalanine, although it us usually used to describe many other disorders rather then just PKU. Partial deficiency of the phenylalanine breakdown enzyme or the lack of another enzyme causes these other disorders as this is important to the processing of the amino acids. Blood phenylalanine levels that are normal within the human body is 1mg/dl, however in PKU, levels may range from 6 to 80mg/dl, but are usually greater than 30. High levels of pheylalanine and its breakdown products can cause significant brain problems.
Causes:
     PKU is inherited in a recessive way. This means an affected person inherited two traits for the disorder, one from both the mother and father. A person with one trait for the disorder, is called a possible carrier for PKU. Carriers do not have symptoms of PKU, but they can pass it to their children.

Symptoms:
     Children that are born with PKU appear normal at birth and have no noticeable symptoms to begin with. Many have blue eyes and lighter hair and paler skin than other family members. Most symptoms of untreated PKU are avoided by newborn screening, early identification, and management. However untreated PKU symptoms in infants consist of vomiting, irritability, an eczema-like rash, and a mousy odor to the urine. About 50% of untreated infants have early symptoms, some also have signs of nervous system function problems, such as increased muscle tone, and more active muscle tendon reflexes. Later, severe brain problems occur, such as mental retardation and seizures.