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Table 1 Characteristics of late-diagnosed (> 7 years) PKU patients who have escaped from intellectual disability despite high plasma Phe concentrations

From: Can untreated PKU patients escape from intellectual disability? A systematic review

Patient characteristics Frequency (percentage)
Gender:
-male 12 (20%)
-female 45 (76%)
-not reported 2 (3%)
Reason diagnosis:
-PKU sibling 19 (32%)
-PKU offspring 8 (16%)
-affected offspring 19 (32%)
-screening 10 (17%)
-PKU relative 1 (2%)
-other 6 (10%)
-not reported 2 (3%)
Genetic confirmation of PAH deficiency
-yes 14 (24%)
-not reported 45 (76%)
Intellectual Quotient (IQ):
 80–90 17 (29%)
 90–100 16 (27%)
 100–120 12 (20%)
  ≥ 120 2 (3%)
 “normal” 12 (20%)
Neurological outcome:
-abnormal 17 (68%)
-no abnormalities (reported) 8 (32%)
Psychological/psychiatric/social outcome:
-abnormal 10 (48%)
-no abnormalities (reported) 11 (52%)