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G82 Study of Acute Liver Failure in Newborns and Young Children with an Underlying Inherited Metabolic Disease
  1. RM Hegarty1,
  2. A Dhawan2,
  3. P Gissen3
  1. 1Neonatal Unit, Guy’s and St Thomas’ NHS Trust, London, UK
  2. 2Paediatric Liver Unit, King’s College NHS Trust, London, UK
  3. 3Department of Metabolic Medicine, Great Ormond Street Hospital for Children, London, UK


Aims To study the demographic, clinical and laboratory findings, diagnoses and outcome of children under 5 years who were admitted with acute liver failure (ALF; INR > 2.0 or INR > 1.5 and encephalopathy) seconday to an underlying inherited metabolic disease (IMD).

Methods A retrospective case note review of children who were admitted between January 2001 to 2012 to a tertiary paediatric liver unit with ALF and a multi-centre review of their long term outcome.

Results A total of 127 children were identified from the database. 36 children (28%; 17 boys; median presenting age 6 weeks, range 1 day-41 months) had an underlying IMD including galactosemia in 17, mitochondrial cytopathy in 7, ornithine transcarbamylase (OTC) deficiency in 4, tyrosinemia type 1 in 4, Niemann-Pick C (NPC) in 3 and congenital disorder of glycosylation type 1 in 1. The remaining aetiologies were: indeterminate in 40 (32%), infectious in 15 (12%), neonatal hemochromatosis in 11 (9%), hemophagocytic syndrome in 8 (6%), drug toxicity in 5 (4%) and other in 10 (8%). Of the 36 children with an IMD consanguinity was present in 16 (44%), developmental delay in 3 (8%), jaundice at presentation in 28 (78%), hepatomegaly in 27 (75%) and encephalopathy in 8 (22%). The median peak (range) INR 4.8 (1.8–15), aspartate transaminase 334umol/L (39–15791) and bilirubin 227umol/L (13–692). Liver biopsy was done in 9 children (25%), neuroimaging in 10 children (28%), bone marrow aspiration in 7 (19%) and muscle biopsy in 5 (14%). 29/36 children with an IMD survived (81%). 4 children with mitochondrial cytopathy (including 1 after transplantation during the postoperative period) and 3 with NPC died. 4 children (1 OTC deficiency; 3 mitochondrial cytopathy) underwent liver transplantation. Follow up data was available for 23 children (mean follow up period, 4 years 3 months) in whom 13 (57%) were identified as having evidence of developmental delay.

Conclusion IMD is a common cause of ALF in children. Indeterminate cases may include undiagnosed metabolic diseases. Survival of children with IMD-related ALF is good, however, long term developmental outcome is less favourable.

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