Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Dominic LenzDesirée E C SmithEllen CrushellRalf A HusainGajja S SalomonsBader AlhaddadJonathan A BernsteinAlyssa BianzanoSaskia BiskupHeiko BrennenstuhlDominique CaldariNicola DikowTobias B HaackAndrea Hanson-KahnInga HartingDenise HornJoanne HughesMaya HuijbertsBertrand IsidorSimone KathemannRobert KopajtichUrania KotzaeridouSébastien KüryElke LainkaLucia LaugwitzJames R LupskiJennifer E PoseyClaire ReynoldsJill A RosenfeldJulian SchröterFleur VansenneMatias WagnerClaudia WeißBruce H R WolffenbuttelSaskia B WortmannStefan KölkerGeorg F HoffmannHolger ProkischMarisa I MendesChristian StaufnerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
ILFS1 is characterized by recurrent elevation of liver transaminases up to liver failure in conjunction with abnormalities of growth, blood, nervous system, and musculature. Encephalopathic episodes with seizures can occur independently from liver crises and may present with metabolic stroke.