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Phenylektonuria - Coggle Diagram
Phenylektonuria
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Pathophysiology
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.
Clinical manifestations
Tremors, trembling or shaking
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Skin conditions such as eczema & odour in the breath, urine
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Management
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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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