There are significant challenges in studying people with intellectual disabilities and considerable difficulties in instituting phenylalanine-restricted diet in this population. However, if attempted, there are potential benefits to quality of life for the individuals with PKU and their carers.
Some people with phenylketonuria who were born before screening began were
never treated and are still alive. Here we report that far fewer people with
untreated phenylketonuria were detected than are thought to exist (about
2000). The majority of those traced had high support needs, challenging
behaviour and other symptoms of phenylketonuria. No significant differences
were found between those who had or had not tried the phenylalanine-restricted
diet. A randomised controlled trial is required to examine the effect of
trying the low-phenylalanine diet for people with untreated
phenylketonuria.
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