Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.

Simple heterozygous mutations in ETFA may be significant, since such mutations in ACAD cause adult onset disease. 24 The patient's ETFA mutation encodes a T171I substitution, which decreases thermal stability of the protein, and is over‐represented in patients with the hyperammonemia‐associated disease of very‐long‐chain acyl‐CoA dehydrogenase deficiency. 25 The second mutation was in ORNT2, which encodes a urea cycle ornithine transporter with 88% amino acid identity to ORNT1 (Figure 1 A). 12 Functional redundancy from ORNT2 may explain the mild phenotype of ORNT1 deficiency relative to other urea cycle disorders.

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