Phenylketonuria is a congenital deficiency of what enzyme?
Updated on July 02, 2025
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Phenylketonuria is a common amino acid metabolic disorder caused by a deficiency of enzymes in the phenylalanine metabolic pathway. This deficiency prevents the conversion of phenylalanine into tyrosine, leading to the accumulation of phenylalanine and its keto acids, which are then excreted in large amounts in the urine. The condition is primarily due to a lack of phenylalanine hydroxylase and is a relatively common autosomal recessive genetic disease. Its main clinical manifestations include intellectual disability, psychiatric and neurological symptoms, eczema, skin scratching, pigment loss, and a mouse-like urine odor.
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