A predominance of IKH in males has been reported. This may suggest an unrecognized disease on the X-chromosome such as GSD IXa in these children. Indeed, several patients diagnosed with KH or IKH have been found to have mutations in PHKA2. By use of trio exome sequencing, research has identified mutations not only in PHKA2, but also in SLC16A1 (MCT1), NCOR1, IGF2BP1, SGLT2 and NEK11 as (potential) novel causes of more atypical children with otherwise unexplained KH. More
