Phenylketonuria (PKU) is associated with deficient activity of phenylalanine hydroxylase (PAH).
Chromosome: 12q23.2
Protein: phenylalanine-4-hydroxylase
Criteria for diagnosis - one of the following:
(1) molecular testing to demonstrate biallelic pathogenic variants of PAH
(2) all of the following
(2a) persistent plasma phenylalanine concentration > 120 µmol/L (2 mg/dL)
(2b) increased ratio of phenylalanine to tyrosine ratio (> 3 versus normal < 1)
(2c) normal BH4 cofactor metabolism
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Specialty: Endocrinology, Clinical Laboratory, Genetics
