Inherited Disorders of Creatine Metabolism

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.