Phenylketonuria
Phenylketonuria or PKU is when the body
can’t process an amino acid phenylalanine or Phe. High levels of Phe are found
in most proteins. Their bodies do not have the enzyme, phenylalanine
hydroxylase (PAH), which converts phenylalanine into a different amino acid
into tyrosine. Failure to convert the amino acid results in the buildup of phenylalanine
(Phe) and too much Phe becomes toxic to the central nervous system. The degree
of Phe in each person is different; therefore the result of a toxic nervous
system varies with each patient. Some signs of untreated PKU in infancy are;
mental retardation, behavior problems, hyperactivity, irritability,
restlessness, seizures, eczema, fair hair and skin, and a musty or mousy body
odor (www.newbornscreening.info). A
newborn screening can indicate the child may have PKU. It is not definitive
until a series of tests confirm the child has PKU. If a newborn has PKU the
development of the child gives the impression of normal development. The result
of PKU starts to show around six months of age. If immediate treatment of PKU
occurs the effects may be prevented and in some cases lessoned or reversed. The
main treatment of PKU is a special diet made up of low Phe foods, special
medical foods and medicinal formula. Some foods to avoid are; eggs, fish, milk,
all dairy products, nuts, regular flour, meat, poultry, regular formula, peanut
butter and dried beans (www.pkunews.org, www.newbornscreening.info). Also
aspartame should be avoided as it contains high levels of Phe and raises the
blood levels of Phe rather quickly (www.newbornscreening.info). This
diet should be followed for life and those, adolescence or adults, who do not
stick to the diet with high Phe levels may have the following symptoms; irritability,
trouble paying attention, eczema, slow thinking, problems making good
decisions, tremors and bone loss (osteopenia) (www.newbornscreening.info). If
this occurs then the diet should be resumed.
Children with PKU that has been treated
immediately after birth and maintained low Phe levels in the blood most likely
will develop normally in growth and intelligence. Some children will have
problems in school, even when treated right away, while those who were treated
several weeks after birth may have learning disabilities and/or delays. To keep
track of Phe levels routine blood tests are taken to measure the Phe. If the
levels are not balanced then the diet is adjusted to reflect the change.
References
Schuett, Virginia. “What is PKU?” National PKU News. National PKU News. February 2008. Web. 22 May 2010.
“About PKU.” PKU- Phenylketonuria. BioMarin Pharmaceutical Inc. n.d. Web. 22 May 2010.
“Amino Acid Disorders.” Newborn Screening Info. STAR-G. 16 December 2007. Web. 22 May 2010.
“Amino Acid Disorders.” Newborn Screening Info. STAR-G. 16 December 2007. Web. 22 May 2010.