Rare Causes of Recurrent Acute Liver Failure In Children: Infantile Liver Failure Syndromes

Recurrent acute liver failure (RALF) is a rare clinical entity characterized by recurrent episodes of acute liver failure and complete recovery of symptoms and laboratory findings within the episodes. Causes include autoimmune disease, which may flare and subside; intermittent exposure to toxins, as with ingestions; and metabolic disorders affecting the mitochondrial respiratory chain, the long-chain fatty acid oxidation pathway or the carnitine cycle, dihydrolipoamide dehydrogenase (E3) deficiency, Wolcott-Rallison syndrome and citrullinemia (Haack TB et al., Am J Hum Genet 2015; 97: 163–9. Bindi V et al., Arch Argent Pediatr 2017; 115: 39–42). However, approximately 50% of the patients cannot be diagnosed despite detailed laboratory investigations. It is likely that monogenic disorders could explain at least some of these undiagnosed cases.