New ideas in inborn errors of metabolism in children and infants

Abstract

In order to highlight the importance of inborn errors of metabolism (IEMs) in children and to update the journal readers regarding the state of the art in diagnosis, management and treatment, we have compiled a special issue of the Journal of Pediatric Biochemistry comprising various types of inborn errors of small molecules (organic acidemias), large molecules (lysosomal disorders), mtDNA disorders, and metabolic muscle disease. One additional section is devoted to educate the reader regarding how neuroimaging can be used to study the IEMs. Each expert shares current knowledge with the readers of this journal. This Special Issue will provide information on IEMs from a clinical, diagnostic, biochemical and therapeutic perspective.