Phenylektonuria
Definition
Pathophysiology
Clinical manifestations
Management
Diagnostic tests
Causes
References
is an inborn error of phenylalanine (Phe) metabolism caused by the deficiency of phenylalanine hydroxylase. This deficiency leads to the accumulation of Phe and its metabolites in tissues and body fluids of PKU patients.
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Encourage the patient to eat a special diet that limits foods containing phenylalanine
Infants with PKU needs to be fed breast milk.
If the baby is old enough to eat solid food, encourage the mother to avoid giving the baby food rich in proteins (eggs, cheese, nuts, chicken, pork)
Administer sapropterin, which helps lower phenylalanine levels
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Tremors, trembling or shaking
Seizures
Hyperactivity
Skin conditions such as eczema & odour in the breath, urine
Stunted growth
Screening tests
Blood tests
is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body
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is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.