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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%)