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J Pediatr. 2014 Apr;164(4):720-725.e6. doi: 10.1016/j.jpeds.2013.12.024. Epub 2014 Jan 30.

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

Author information

  • 1Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO. Electronic address: Renata.gallagher@childrenscolorado.org.
  • 2Division of Genetics, Department of Pediatrics, University of California Los Angeles, Los Angeles, CA.
  • 3Division of Genetics, Department of Pediatrics, University of California Los Angeles, Los Angeles, CA; Departments of Psychiatry and Human Genetics, University of California Los Angeles, Los Angeles, CA.
  • 4Section of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Digestive Health Institute, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO.

Abstract

OBJECTIVE:

To determine the frequency of significant liver injury and acute liver failure (ALF) in patients with ornithine transcarbamylase deficiency (OTCD), the most common urea cycle defect.

STUDY DESIGN:

In this historical cohort study, charts of 71 patients with OTCD at 2 centers were reviewed to assess the prevalence of ALF (international normalized ratio [INR] ≥2.0), liver dysfunction (INR 1.5-1.99), and hepatocellular injury (aspartate aminotransferase/alanine aminotransferase ≥250 IU/L).

RESULTS:

More than one-half (57%) of the 49 patients with symptomatic OTCD had liver involvement; 29% met the criteria for ALF, 20% had liver dysfunction, and 8% had isolated hepatocellular injury. The prevalence of ALF was highest in the patients with more severe OTCD, including those with markedly elevated ammonia levels (>1000 μmol/L). Some patients with severe liver involvement (INR ≥2.0 and aspartate aminotransferase/alanine aminotransferase >1000 IU/L) had only moderate hyperammonemia (ammonia 100-400 μmol/L). ALF was the initial presenting symptom of OTCD in at least 3 of 49 symptomatic patients with OTCD.

CONCLUSION:

Episodes of hepatocellular injury, liver dysfunction, and ALF were identified in a high proportion of children with symptomatic OTCD. The more severely affected patients had a higher likelihood of ALF. The diagnosis of a urea cycle defect should be considered in patients with unexplained ALF, liver dysfunction, or hepatocellular injury.

Copyright © 2014 Mosby, Inc. All rights reserved.

PMID:
24485820
[PubMed - indexed for MEDLINE]
PMCID:
PMC4070427
[Available on 2015/4/1]
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