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PHENYLKETONURIA (PKU), , s - Coggle Diagram
PHENYLKETONURIA (PKU)
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DIAGNOSIS REQUIREMETS
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Developmental screening
regular review of diet records, growth charts and blood levels
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Diagnostic test
New born blood testing, analyzes the levels of amino acids including phenylalanine, urine specimen
ETIOLOGY
Genetic mutations. defective gene causes a lack of or deficiency of the enzyme that's needed to process phenylalanine.
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GENERAL OVERVIEW
PKU is a disorder affecting the aromatic amino acid, phenylalanine.it results from a deficiency of phenylalanine hydroxylase and, if not treated, results in irreversible intellectual disability among other clinical symptoms.
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