A review ofÂ disorders of selenium metabolism and selenoproteins was recently publised in Current Opinion in Pediatrics. It includes up to date descriptions of SECISBP2 syndrome, causing thyroid dysfunction and growth retardation, and SEPSECS mutationsÂ causingÂ progressiveÂ cerebellar and cerebral atrophy. Other abnormalitiesÂ seen inÂ impaired selenium metabolism include impaired muscle function, and immune deficits.
(Schweizer et al, Current Opinion in Pediatrics, 2011, 23:June 8, epub.)
Posted by Hilary Vernon MD PhD