• To determine the importance of an abnormal EEG in phenylketonuria (PKU), we reviewed 137 EEGs from 48 patients with PKU. Patients were divided into three groups: group 1 (n = 14) had only normal EEGs, group 2 (n = 20) had only abnormal EEGs, and group 3 (n = 14) initially had normal EEGs that later became abnormal. The most common EEG abnormality was focal paroxysmal discharge. Patients in group 2 started treatment at a later age and had a greater frequency of seizures and mental retardation. Phenylalanine levels greater than 20 mg/dL were more often associated with abnormal EEGs. Older patients were more likely to have abnormal EEGs; 78% of the 41 patients who had EEGs at age 6 or older had abnormal records, whereas only 15% of the 26 patients who had EEGs before the age of 6 had abnormal records. Conventionally treated patients with classic PKU and normal EEGs in infancy may have abnormal EEGs when retested later even though they remain on a restricted diet. Although not usually associated with clinical deterioration, abnormal EEGs may unveil the presence of CNS dysfunction even when a child is in satisfactory clinical condition.
Gross PT, Berlow S, Schuett VE, Fariello RG. EEG in Phenylketonuria: Attempt to Establish Clinical Importance of EEG Changes. Arch Neurol. 1981;38(2):122–126. doi:10.1001/archneur.1981.00510020080013
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