Phenylketonuria: a clinical and genetic study of British families

Abstract

This thesis analyses 43 families with 86 cases of phenylketonuria, a rare metabolic disorder always associated with mental defect and occurring in about 4 per 100,000 persons, defines the symptomatology, discusses the pathology and biochemistry, proves the inheritance of the disease as a Mendelian recessive Character, records the presence of other mental disorders in the families and reviews the literature.