Phenylketonuria (PKU)

I
 PKU
Is a disease of protein metabolism, inherited as
an autosomal –recessive trait, characterized
by the inability to metabolize the essential
amino acid phenylalanine
 Pathophysiology
Dietary
phenylalanine

• Abnormal
Increased serum
metabolites
levels of
formed
phenylalanine

normal metabolic pathway

Phenylpyruvic blocked CNS damage
acid in urine
Decreased tyrosine
mental retardation
hyperactivity seizures
 Continuation

Decreased Decreased
Decreased dopa
tryptophan melanin

Decreased
levels of Decreased plasma
serotonin levels of Fair skin
catecholamine Blue eyes
Blond hair
 Clinical manifestations
• Failure to thrive
• Frequent vomiting
• Irritability
• Hyperactivity
• Unpredictable and erratic behavior.
 Clinical manifestations
• Bizarre or schizoid behavior patterns are
common in older children, such as fright
reactions, screaming episode, head banging,
arm biting, disorientation, failure to respond
to strong stimuli, and catatonia-like-positions.
• Severely retarded children have convulsions.
 Diagnostic Evaluation
• Newborn screening – only fresh heel blood,
not cord can be used for the test.
- screening is effective if the
blood sample is taken after the
infant has ingested a source of
protein.
 Treatment
• Phenylketonuria is treated with a special diet that is low in
phenylalanine.
• To prevent mental retardation, treatment must begin shortly after
birth.
• Since protein is essential for normal growth and development, the
child must continue on a special formula that provides protein and
essential nutrients, but contains little or no phenylalanine.
• People with PKU require specialized treatment through a clinic
with experience in treating this disorder.
• Avoid aspartame
• Amino acid supplementation
 Interventions
• Maintain a strict dietary regimen.
• Foods with low phenylalanine (some
vegetables except legumes; fruits, juices, and
some cereals, breads and starches must be
measured to provide the amount of
phenylalanine.
• Avoid meat & dairy products.