Diagnosis:CSF,Blood,FB, DNA CSF: Sep (high), Bio (high), BH2 (high), 5HIAA (low), HVA (low)
Phe loading test (abnormal) Blood: Prolactin (high) FB: SR activty (low) DNA: see PNDDB
Clinical signs & symptoms:
Motor and cognitive delay
Dystonia
Diurnal fluctuation
Oculogyric crises
Speech delay
Axial hypotonia
Limb hypertonia
Seizures