TY - JOUR T1 - Acute liver failure related to inherited metabolic diseases in young children JO - Anales de Pediatría (English Edition) T2 - AU - Dias Costa,Filipa AU - Moinho,Rita AU - Ferreira,Sandra AU - Garcia,Paula AU - Diogo,Luísa AU - Gonçalves,Isabel AU - Pinto,Carla SN - 23412879 M3 - 10.1016/j.anpede.2017.03.003 DO - 10.1016/j.anpede.2017.03.003 UR - https://analesdepediatria.org/en-acute-liver-failure-related-inherited-articulo-S2341287917300650 AB - IntroductionPediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. ObjectiveTo describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. Material and methodsRetrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology. ResultsFrom 34 ALF cases, 18 were related to IMD: galactosemia (4), mitochondrial DNA depletion syndrome (MDS) (3), ornithine transcarbamilase deficiency (3), congenital defects of glycosylation (2), tyrosinemia type 1 (2), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (1), hereditary fructose intolerance (1), classic methylmalonic aciduria (1) and citrulinemia type 1 (1). The median age was 1.3 months. At least one previous suggestive sign/symptom of IMD (vomiting, failure to thrive, hypotonia or developmental delay) was observed in 67% of the cases. The most common physical signs at admission included: hepatomegaly (72%), jaundice (67%) and encephalopathy (44%). The peak laboratorial findings were: mean international normalizad ratio 4.5, median lactate 5mmol/L, mean bilirubin 201μmol/L, median alanine aminotransferase (ALT) 137UI/L and median ammonia 177μmol/L. One patient was submitted to liver transplant in ALF context (MSD). The mortality rate was 44%. DiscussionThe identification of IMD as a frequent cause of ALF allowed specific therapeutic measures and adequate family counseling. Particular clinical features and moderated ALT and bilirubin levels can lead to its suspicion. ER -