In summary, the patient was heterozygous for deleterious mutations in 2 hyperammonemia genes: ORNT1 for ornithine transport, and ETFA for fatty acid oxidation (red stars in Figure 1A,C), and heterozygous for a deleterious mutation in ALMS1 affecting liver function (Figure 2F). The gene discussed is ALMS1; the disease is Hyperammonemia.