Acute liver failure related to inherited metabolic diseases in young children

Introduction: Pediatric 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. Objective: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. Material and methods: Retrospective 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. Results: From 34 ALF cases, 18 were related to IMD: galactosemia (4), mitochondria) 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 niethylmalonic 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 normalized ratio 4.5, median lactate 5 mmol/L, mean bilirubin 201 mu mol/L, median alanine aminotransferase (ALT) 137 UI/L and median ammonia 177 mu mol/L. One patient was submitted to liver transplant in ALF context (MSD). The mortality rate was 44%. Discussion: The identification of IMD as a frequent cause of ALF allowed specific therapeutic measures and adequate family counselling. Particular clinical features and moderated ALT and bilirubin levels can lead to its suspicion. (C) 2016 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L.U. All rights reserved.