Adults with untreated phenylketonuria: out of sight, out of mind.
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.
Murphy
Glynis H
GH
Tizard Centre, University of Kent, Canterbury CT2 7LZ, UK. g.h.murphy@kent.ac.uk
Johnson
Sally M
SM
Amos
Allayne
A
Weetch
Eleanor
E
Hoskin
Rosemary
R
Fitzgerald
Brian
B
Lilburn
Maggie
M
Robertson
Lesley
L
Lee
Philip
P
D000328:Adult; D000368:Aged; D019587:Dietary Supplements; D005260:Female; D006306:Health Surveys; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000178:diet therapy / Q000628:therapy; D008297:Male; D008875:Middle Aged; D010649:Phenylalanine / Q000008:administration & dosage*; D010661:Phenylketonurias / Q000175:diagnosis / Q000178:diet therapy / Q000453:epidemiology*; D006113:United Kingdom / Q000453:epidemiology; D055815:Young Adult
D010649:Phenylalanine