Fig. 3: Relative ureagenesis function.

A Ammonia at diagnosis and RUF (relative ureagenesis function) for all patients; results are shown for individual patients using different geometric symbols for each single disease. Control range for RUF is indicated as a light gray box. Plasma ammonia control range is shown as thickened light gray line at the bottom. B RUF from patients according to severity and presence (Sympt) or absence (Asympt) of symptoms. Only patients with an enzymatic defect in the urea cycle were included. Boxes show the median, and the minimum and maximum values for each group; C RUF values per disease of all patients. Not significant comparisons were omitted from the graph for clarity purposes; D 3D graph of mutation severity, maximum ammonia at diagnosis and RUF. Mutations were classified mild (1 in light pink) intermediate (2 in pink) or severe (3 in blue). This graph only includes patients with an enzymatic UCD defect (n = 27). OTC females were excluded due to X-inactivation making the classification of mutation not useful (graph was made using plotly: https://chart-studio.plotly.com). ARGD: arginase 1 deficiency; ASLD: argininosuccinate lyase deficiency; ASSD: argininosuccinate synthetase deficiency; CTND: citrin deficiency; CPS1D: carbamoylphosphate synthetase 1 deficiency; HHH: hyperornithinemia, hyperammonemia and homocitrullinuria. OTCD_M: ornithine transcarbamylase deficiency in males, OTCD_F_SYMPT: OTCD females symptomatic; OTCD_F_ASYMPT: OTCD females asymptomatic. The “Others” group includes: dihydrolipoamide dehydrogenase deficiency, hepatic encephalopathy and chronic liver disease, lysinuric protein intolerance, propionic acidemia, and transmembrane protein 70 deficiency. All the results here obtained were from plasma samples. ****p < 0.0001, ***p < 0.001, *p < 0.05, ns: not significant.