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Phenylketonuria -- A Brief Outline

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What is Phenylketonuria?

     Phenylketonuria is a metabolic disorder in which the absence of a liver enzyme (Phenylalanine hydroxylase) prevents the body from carrying out the normal process of converting the amino acid phenylalanine to another animo acid, tyrosine.  This results in a high level of phenylalanine and a dangerously low level of tyrosine.  A low level of tyrosine can cause many problems (see What are the Symptoms) and a build-up of phenylalanine is toxic and causes brain problems. 

How Rare is PKU?

Phenylketonuria (PKU) occurs in about 1\10,000--15,000 caucasion or oriental births.  PKU happens much less often in African Americans.  In some interbreeding societies, though, it can occur in about 1\125 births.  The disease occurs equally in males and females.

 

How is the Disease Passed On?

PKU is an autosomal recessive disorder.  This means that each parent has one mutated gene for the disorder, but doesn't express the symptoms.  The child will have PKU when both parents pass on their mutated gene to their offspring.

Phenylketonuria is inherited in an autosomal recessive fashion

What Are the Symptoms?

Untreated Infant Phenylketonuria Symptoms:

  • Vomiting
  • Irritability
  • Rash
  • Musty-smelling urine
  • Increased muscle tone
  • More active muscle tendon reflexes

Untreated Matured Phenylketonuria Symptoms:

  • Mental retardation
  • Prominent cheek and jaw bones
  • Widely spaced teeth
  • Poor tooth enamel development
  • Decreased body growth

How is PKU treated?

Newborn testing for Phenylketonuria is the best key for effective treatment.  Newborn screening began in the 1960's.  As of 2004, urine and blood testing for PKU in newborns is given in every state in the United States along with many other countries.  PKU is treated by a special diet of foods containing only enough proteins to satisfy the amount of phenylalanine that is needed for proper growth and development.  Food in this diet include fruits, vegetables, and some grains and cereals.  A synthetic formula provides for the remaining phenylalanine.  If treated, the affected individual will live a normal life, but it left untreated, the individual will suffer from severe mental retardation and could suffer from seizures.  These resulting symptoms could be fatal.

Blood is taken from a two-week old infant to test for phenylketonuria

A newborn's blood is tested for PKU.

How can I help?

The National Society for Phenylketonuria (NSPKU) is asking for your generosity to make donations to help treat and promote care for people with phenylketonuria.  Donations are taken securely online at the website www.justgiving.com/nspku/raisemoney/.  This website allows anyone to make a specific fundraising page for their loved one with phenylketonuria.  This link (http://www.justgiving.com/deborahcasale) is a fundraising page for Phoebe Casale, who suffers from Phenylketonuria.  Or, if you want to raise awareness for Phoebe Casale, simply copy the following code into your blog, webpage, or myspace account.

<object type="application/x-shockwave-flash" allowScriptAccess="always" allowNetworking="all" height="230" width="150" align="middle" data="http://www.justgiving.com/widgets/jgwidget.swf" flashvars="EggId=904313&IsMS=0"><param name="movie" value="http://www.justgiving.com/widgets/jgwidget.swf" /><param name="allowScriptAccess" value="always" /><param name="allowNetworking" value="all" /><param name="quality" value="high" /><param name="wmode" value="transparent" /><param name="flashvars" value="EggId=904313&IsMS=0" /><param name="bgcolor" value="#ffffff" /></object>

Credits

*Information taken from:

*Images taken from wikipedia.org