Abstract
PURPOSE OF REVIEW Inborn errors of metabolism are increasingly recognized as underlying causes in pediatric diseases. Selenium and selenoproteins have only recently been identified as causes of inherited defects. Respective case reports have broadened our understanding of selenoprotein function and their developmental importance. This review presents the characterized defects and tries to attract attention to the spectrum of potential phenotypes. RECENT FINDINGS The characterization of patients with inherited mutations in selenoprotein N has corroborated the physiological importance of selenium for muscle function. Individuals with inherited defects in selenocysteine insertion sequence (SECIS)-binding protein 2 display a syndrome of selenoprotein-related defects including abnormal thyroid hormone metabolism, delayed bone maturation, and other more individual phenotypes. The recent identification of mutations in selenocysteine synthase causing progressive cerebello-cerebral atrophy underlines the central role of selenoproteins in brain development and protection from neurodegeneration. SUMMARY The spectrum of diseases related to inborn defects of selenium utilization, transport, and metabolism is expanding. However, only few examples are already known, resulting from defects in one selenoprotein gene and two genes involved in selenoprotein biosynthesis, respectively. Complex syndromes with impaired muscle function, stunted growth, neurosensory and/or immune defects may point to the involvement of impaired selenium metabolism and selenoprotein function, necessitating specific diagnostic procedures.
