Inherited Disorders of Creatine Metabolism
Birutė Tumienė, Vaidutis Kučinskas
Summary
Creatine as an organic compound, involved in the energy metabolism of various species, was described more than 150 years ago; however, importance of this compound in human health and disease remained unknown for a long time. Recently, inherited disorders of creatine as well involvement of creatine in various secondary pathogenetic mechanisms of neuromuscular and neurodegenerative diseases were described and interest of scientists in creatine increased markedly. This article reviews some state of the art knowledge in the metabol ism of creatine in humans, clinical features, diagnostics and treatment of inherited disorders of creatine metabol ism and presents some new theories and unsolved questions in the field. It is known that creatine transporter deticiency is a frequent cause of mental retardation in males. There is increasing data indicating that early treatment can help prevent or at least alleviate clinical symptoms in two inherited defects of creatine metabolism. Therefore timely performed and reliable diagnostics of inborn errors of creatine metabolism is of high importance.
Keywords: creatine, metabolism, disorder, biosynthesis, transport.
