Institute for Experimental Endocrinology, Charité, University Medicine Berlin, Berlin, Germany.
Curr Opin Pediatr. 2011 Aug;23(4):429-35. doi: 10.1097/MOP.0b013e32834877da.
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.
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.
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.
越来越多的先天性代谢缺陷被认为是儿科疾病的潜在病因。硒和硒蛋白最近才被确定为遗传性缺陷的原因。各自的病例报告拓宽了我们对硒蛋白功能及其发育重要性的认识。这篇综述介绍了已确定的缺陷，并试图引起人们对潜在表型谱的关注。
对硒蛋白 N 中遗传突变患者的特征描述证实了硒对肌肉功能的生理重要性。具有 SECIS-结合蛋白 2 中遗传缺陷的个体表现出与硒蛋白相关的缺陷综合征，包括异常甲状腺激素代谢、骨成熟延迟以及其他更具个体性的表型。最近发现硒代半胱氨酸合酶的突变导致进行性小脑-大脑萎缩，强调了硒蛋白在大脑发育和防止神经退行性变中的核心作用。
与硒利用、运输和代谢先天性缺陷相关的疾病谱正在扩大。然而，目前已知的仅有少数几个病例，这些病例是由一个硒蛋白基因和两个参与硒蛋白生物合成的基因的缺陷引起的。伴有肌肉功能障碍、生长迟缓、神经感觉和/或免疫缺陷的复杂综合征可能表明硒代谢和硒蛋白功能受损，需要进行特定的诊断程序。
