title: Adults with untreated phenylketonuria: out of sight, out of mind.
abstract: 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.
authors.affiliation: Tizard Centre, University of Kent, Canterbury CT2 7LZ, UK. g.h.murphy@kent.ac.uk
authors.forename: Glynis H
authors.initials: GH
authors.lastname: Murphy
authors.forename: Sally M
authors.initials: SM
authors.lastname: Johnson
authors.forename: Allayne
authors.initials: A
authors.lastname: Amos
authors.forename: Eleanor
authors.initials: E
authors.lastname: Weetch
authors.forename: Rosemary
authors.initials: R
authors.lastname: Hoskin
authors.forename: Brian
authors.initials: B
authors.lastname: Fitzgerald
authors.forename: Maggie
authors.initials: M
authors.lastname: Lilburn
authors.forename: Lesley
authors.initials: L
authors.lastname: Robertson
authors.forename: Philip
authors.initials: P
authors.lastname: Lee
mesh_terms: 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
chemical_list: D010649:Phenylalanine