[Genetic heterogeneity of congenital metabolic disorders. A bridge between the physician and the basic science researcher]

Abstract

Earlier diagnosis of genetic diseases was based on clinical symptoms. Today, molecular biology and biochemistry have led to a better understanding of genetic principles. The exact diagnosis of more than 100 metabolic diseases rests on biochemical investigations which in general are carried out by specialized groups outside the sphere of direct patient care. The study of genetic heterogeneity of inherited metabolic disorders may be a bridge between the doctor and the basic researcher. The doctor will principally concentrate on the relation between gene mutation, enzyme deficiency and the resulting clinical peculiarities. The investigation of the genetic heterogeneity may provide important information on the various aspects of molecular genetics and cell metabolism.