THE VARIABILITY IN MANIFESTATIONS OF UNTREATED PATIENTS WITH PHENYLKETONURIA (PHENYLPYRUVIC ACIDURIA)

摘要: One hundred six cases of phenylketonuria have been surveyed in 11 institutions New England and Eastern Canada. Data not previously available (and some degree uncertainty as to reliability) are presented the ages at which patients with achieve ability sit unsupported, walk independently, say recognizable words. A small number these steps reasonably near normal age variability is such that early developmental timetables should be overemphasized interpreting possible effects any treatment disease. Both eczema seizures proportionately more frequent severely retarded than those lesser degrees intellectual defect. If present time an experimental instituted, they would provide objective evidence benefit. Electroencephalograms were abnormal 79% for whom tracings one means evaluating plans even absence seizures. While majority blue eyes blond hair, there enough suggest a tendency darkening hair this also used caution evaluation treatment. Frequencies various neurologic manifestations presented, including unusual hand posturing, tremor, hyperreflexia, clonus spasticity. These all variable positive diagnosis [See FIG. 2. Source Pdf.] by physical examination possible, further, well adapted The distribution intelligence quotients appears follow continuous curve include persons borderline or better intelligence. In assessing effect treatment, it unwarranted ascribe attainment levels may reached numbers patients, especially if originally tested infancy childhood. therapy can adequately evaluated only comparing changes treated phenylketonuria, comparable control selected on basis intelligence, age, accomplishments, status respect color, eczema, convulsive electroencephalographic findings.