PHENYLKETONURIA

Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential
amino acid, phenylalanine. Amino acids are the building blocks for body proteins. 'Essential' amino acids can only be
obtained from the food we eat as our body does not normally produce them. n 'classic PKU', the enzyme that breaks
down phenylalanine phenylalanine hydroxylase, is completely or nearly completely deficient. This enzyme normally
converts phenylalanine to another amino acid, tyrosine. Without this enzyme, phenylalanine and its' breakdown
chemicals from other enzyme routes, accumulate in the blood and body tissues. Although the term
'hyperphenylalaninemia' strictly means elevated blood phenylalanine, it is usually used to describe a group of
disorders other than classic PKU. These other disorders may be caused by a partial deficiency of the phenylalanine
breakdown enzyme or the lack of another enzyme important to the processing of this amino acid. A normal blood
phenylalanine level is about 1 mg/dl. n classic PKU, levels may range from 6 to 80mg/dl, but are usually greater than
30mg/dl. Levels are somewhat less in the other disorders of hyperphenylalaninemia. Chronically high levels of
phenylalanine and some of its breakdown products can cause significant brain problems. Classic PKU is the most
common cause of high levels of phenylalanine in the blood and will be the primary focus of this topic sheet.
INCIDENCE:
Classic PKU and the other causes of hyperphenylalaninemia affect about one of every 10,000 to 20,000 Caucasian
or Oriental births. The incidence in African Americans is far less. These disorders are equally frequent in males and
females.

CAUSE:
PKU and the other causes of hyperphenylalaninemia are inherited in a recessive fashion. This means an affected
person inherited two traits for the disorder (e.s., one from each parent). A person with one trait for the disorder, is
called a 'carrier' for PKU. Carriers do not have symptoms of the disorder.

SYMPTOMS:
nfants with PKU appear normal at birth. Many have blue eyes and fairer hair and skin than other family members.
Currently, most symptoms of untreated PKU are avoided by newborn screening, early identification, and
management. (see Treatment Section) The following describes untreated PKU symptoms-currently a rarity: About 50%
of untreated infants have early symptoms, such as vomiting, irritability, an eczema-like rash, and a mousy odor to the
urine. Some may also have subtle 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.
Other commonly noted features in untreated children include: microcephaly (small head), prominent cheek and upper
jaw bones with widely spaced teeth, poor development of tooth enamel, and decreased body growth.

TREATMENT:
Every state now screens the blood phenylalanine level of all newborns at about 3 days of age. This test is one of
several newborn screening tests performed before or soon after discharge from the hospital. Usually, a few drops of
blood are obtained by a small prick on the heel, placed on a card, and then sent for measurement. f the screening
test is abnormal, other tests are needed to confirm or exclude PKU. Newborn screening allows early identification and
early implementation of treatment. The goal of PKU treatment is to maintain the blood level of phenylalanine between
2 and 10 mg/dl. Some phenylalanine is needed for normal growth. This requires a diet that has some phenylalanine
but in much lower amounts than normal. High protein foods, such as: meat, fish, poultry, eggs, cheese, milk, dried
beans, and peas are avoided. nstead, measured amounts of cereals, starches, fruits, and vegetables, along with a
milk substitute are usually recommended. Phenylalanine free formulas are available for all age groups. n some
clinics, a phenylalanine 'challenge' may be suggested to evaluate whether or not the child continues to require a low
phenylalanine diet. This test identifies those few persons with a transient or 'variant' form of the disorder. However,
most authorities currently recommend lifelong dietary restriction of phenylalanine for individuals with classic PKU, in
order to promote maximal development and cognitive abilities.

hLLp//wwwmedhelporg/llb/pkuhLm


Eat, Drink, and DeIiver
Eating lightly during labor did not affect duration of labor, incidence of vomiting, or neonatal
outcomes.
Many hospitals and birthing centers encourage fasting or clear liquids in an effort to avoid
pulmonary aspiration during labor, especially if emergency cesarean delivery and general
anesthesia might be required. nvestigators in a London hospital randomized 2400 nulliparous
laboring women to low-fat, low-residue diets or water alone to determine whether food
consumption during labor affected rates of spontaneous vaginal deliveries, duration of labor,
incidence of vomiting, or neonatal outcomes. Women who were at risk for cesarean delivery,
who were in severe pain, or who intended to use intravenous opioids were excluded (epidural
anesthesia or nitrous oxide and oxygen were permitted).
About one quarter of participants did not adhere to their assigned intakes. The two groups were
similar in rates of vaginal deliveries (44%), instrumental vaginal deliveries (26%), cesarean
deliveries (30%), use of oxytocin to augment labor (53%56%), duration of labor (approximately
10 hours), maternal vomiting (34%), and neonatal outcomes based on Apgar scores or intensive
care admissions.
Comment: An editorialist comments that the vaginal delivery rate in this study is much lower
than the U.K.'s national average of about 65% when this trial was in progress. To me, the 26%
instrumental delivery rate and >50% augmentation rate also seem high; therefore, these
findings might not be generalizable to all hospitals. n addition, the exclusion of women who
might have selected opioid analgesia could be a confounding factor; conceivably, narcotic use
could have led to maternal vomiting in more women who ate than in those who fasted. With
these limitations in mind, however, the results suggest that women should be allowed to choose
whether they consume nothing, drink clear liquids, or eat lightly during labor. Back in the era
when women delivered with little to no "medical" assistance, most likely ate or drank what they
felt was appropriate. Given that this trial showed that outcomes are unaffected, hospital
protocols might be loosened if other adequately powered studies confirm the safety of eating or
drinking during labor.

hLLp//womenshealLh[waLchorg/cgl/conLenL/full/2009/409/2

Submitted By: Submitted to:

Miwa shii Ma'am Ly
BSN 2Y2-5
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