Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Mitochondrial disease is concerning with rapid infantile liver failure. Two sibling pairs with variants in QIL1, a gene important for mitochondrial contact site and cristae organizing system (MICOS) function, were recently reported. They had intermittent liver disease, mild cardiac hypertrophy, cerebellar atrophy, acquired microcephaly, neurologic impairment and death before age 5 (12mo-5yo). Patients also had lactic acidosis and urinary excretion of 3-methylglutaconic acid (3MCGA) (1, 2). An additional case had renal stones, liver failure and progressive neurologic decline with death at 22mo (3). We discuss 7 unreported patients. This article is protected by copyright. All rights reserved.