Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency

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 (UCD). STUDY DESIGN: A historical cohort study was performed. Charts were reviewed at two centers to assess the proportion of 71 individuals with OTCD who had evidence of ALF (INR ≥ 2.0), liver dysfunction (INR 1.5–1.99), or hepatocellular injury (AST/ALT≥ 250 IU/L). RESULTS: 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 proportion with ALF was greatest in those with more severe OTCD, including neonates with markedly elevated ammonia levels (> 1,000 μmol/L). Some patients with severe liver involvement (INR ≥ 2.0 and AST/ALT > 1,000 IU/L) had only moderate hyperammonemia (100 – 400 μmol/L). ALF was the initial presenting symptom of OTCD in at least 3 of 49 symptomatic OTCD patients. CONCLUSIONS: Episodes of hepatocellular injury, liver dysfunction, and ALF were identified in a high proportion of individuals with symptomatic OTCD. The more severely affected OTCD patients had a higher likelihood of ALF. The diagnosis of a UCD should be considered in unexplained ALF, liver dysfunction or hepatocellular injury

Implication hépatique dans les troubles du cycle de l'urée

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