Hydroxyprolinemia Associated with Mental Deficiency

Abstract

THE recent description in this journal of a family with a high plasma proline concentration associated with cerebral dysfunction and renal disease¹ raised unanswered questions of the relation between the metabolic defect and the clinical disturbances. The purpose of this preliminary communication is to call attention to another previously undescribed amino acid abnormality, hydroxyprolinemia, which is also associated with cerebral and renal disorders.The aminoaciduria was detected by paper chromatography during a survey of the population of the Wrentham State School, a large state institution for mental defectives.The patient was an eleven-year-old prepubertal girl with no history of convulsions, . . .