Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
James E SquiresAlexander Gerhard MiethkeC Alexander ValenciaKieran HawthorneLisa HennJohan L K Van HoveRobert H SquiresKevin BoveSimon HorslenRohit KohliJean P MollestonRene RomeroEstella M AlonsoJorge A BezerraStephen L GutheryEvelyn HsuSaul J KarpenKathleen M LoomesVicky L NgPhilip RosenthalKrupa MysoreKasper S WangMarisa W FriederichJohn C Mageenull nullPublished in: Hepatology communications (2023)
Differences between ALF and Chronic MH phenotypes included age at diagnosis, systemic involvement, transplant-free survival, and genetic etiology, underscoring the need for ultra-rapid sequencing in the appropriate clinical setting. Cluster analysis revealed a group meeting enrollment criteria but without an identified genetic or enzymatic diagnosis, highlighting the need to identify other etiologies.