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Table 5 The sensitivity and specificity of neopterin and biopterin in the classification of PKU into typical and atypical cases

From: The value of simultaneous determination of blood large neutral amino acids and tetrahydrobiopterin metabolites in the diagnosis of atypical hyperphenylalaninemia

  

BH4 loading test

Neopterin

Biopterin

Classic PKU (Phe > 600 μg/L)

Phe

+

Sen (%)

Spe (%)

Sen (%)

Spe (%)

+

(46)a

(0)b

100

100

100

100

(0)c

(50)d

    

Atypical PKU (Phe < 120 μg/L)

Phe

+

Sen (%)

Spe (%)

Sen (%)

Spe (%)

+

(14)a

(0)b

100

100

100

100

(0)c

(50)d

    
  1. PKU phenylketonuria, Phe phenylalanine, BH4 tetrahydrobiopterin, Sen sensitivity, Spe specificity
  2. Sensitivity (%) = (TP/TP + FN) × 100; specificity (%) = (TN/TN + FP) × 100
  3. aTP = true positive
  4. bFP = false positive
  5. cFN = false negative
  6. dTN = true negative