Article
An occipito-temporal syndrome in adolescents with optimally controlled hyperphenylalaninaemia.
Journal of inherited metabolic disease - 1 Jan 1992
Lou H C, Toft P B, Andresen J, Mikkelsen I, Olsen B, Güttler F, Wieslander S, Henriksen O
Abstract excerpt
The study included 16 adolescents with optimally controlled hyperphenylalaninaemia (McKusick 26160), of whom six did not require treatment according to conventional criteria. All except the two patients with lowest median serum phenylalanine level throughout childhood (most values at 200-300 mumol/L) had white matter abnormalities detectable with magnetic resonance imaging. The lesions were particularly prominent...
Topics
- Adolescent
- Adult
- Electroencephalography
- Humans
- Magnetic Resonance Imaging
- Mutation
- Occipital Lobe
- Phenotype
- Phenylketonurias
- Syndrome
- Temporal Lobe