Phenylalanine metabolic disorders

Phenylketonuria (PKU) is a genetic disease caused by phenylalanine hydroxylase (PAH) deficiency or decreased activity in the liver, resulting in phenylalanine metabolism disorders. It is more common in hereditary disorders of amino acid metabolism. The inheritance of this disease is autosomal recessive. The clinical manifestations are uneven. The main clinical features are mental retardation, neuropsychiatric symptoms, eczema, skin scratch signs, loss of pigment, and rat odor, etc., and abnormal EEG. If early diagnosis and early treatment can be obtained, the aforementioned clinical manifestations may not occur, intelligence is normal, and EEG abnormalities can also be recovered.

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