SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

Abstract

Our findings add <i>SERAC1</i> to the increasing list of complex lipid cHSP genes. At the same time they redefine the phenotypic spectrum of SERAC1 deficiency. It is associated not only with the severe infantile-onset 'Methylglutaconic aciduria, Deafness, Encephalopathy, Leigh-like' syndrome (MEGDEL syndrome), but also with oligosystemic juvenile-onset cHSP as part of the now unfolding <i>SERAC1</i> deficiency spectrum.