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EC Number	General Information	Commentary	Reference
1.4.1.20	malfunction	an inborn error of amino acid metabolism, in which the conversion of L-phenylalanine to L-tyrosine is impaired and can cause profound mental retardation if not detected and treated soon after birth, is phenylketonuria, a disease due to an autosomal recessive inheritance that codes for a type of phenylalanine hydroxylase with reduced enzymatic activity, resulting in high levels of L-Phe in inborn fluid and phenylpyruvate in urine	723965

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Release 2023.1 (January 2023)