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. Author manuscript; available in PMC: 2020 Jul 1.
Published in final edited form as: Ann Neurol. 2019 May 13;86(1):116–128. doi: 10.1002/ana.25492

Figure 5: Mosaic plot presenting the association of disease severity with therapy intensity from 359 UCD individuals at last psychological testing.

Figure 5:

Individuals with information on the variables disease onset, cSDS tests, initial NH4+max, and specific therapy are presented. Individuals belonging to escalation level (EL) 0 (n=50) receive no therapy, whereas individuals on EL 1 (n=96) receive a natural protein intake below 100% WHO safe values (NPI) or L-arginine/-citrulline/-ornithine ± carglumic acid for NAGS-D. EL 2 (n=29) corresponds to NPI and L-arginine/-citrulline/-ornithine ± carglumic acid for NAGS-D. EL 3 (n=147) applies to individuals receiving one scavenger (BZA or PBA) ± NPI ± L-arginine/-citrulline/-ornithine ± carglumic acid for NAGS-D, and EL 4 (n=37) includes individuals receiving two scavengers (BZA and PBA) ± NPI ± L-arginine/-citrulline/-ornithine ± carglumic acid for NAGS-D. The height of the boxes represent the proportion of EL, the widths of the boxes in a row represent the proportions of individuals with a specific disease onset (EO, LO, ASx) within that EL. The intensities of color reflect the discrepancies between observed and expected frequencies. Blue color shows that observed frequencies are higher than expected, red color shows that observed frequencies are lower than expected. Pearson residuals indicate that ASx individuals are overrepresented in EL 0 and 1 and underrepresented in EL 2 to 4. Symptomatic UCD individuals (EO, LO) are similarly distributed within EL 2 to 4. However, (severe) metabolic decompensations increase continuously between EL 2 to 4, as mirrored by the median initial NH4+max (EL 2: median initial NH4+max 198.0 μmol/l, n=14/29; EL 3: median initial NH4+max 270.0 μmol/l, n=111/147; EL 4: median initial NH4+max 335.5 μmol/l, n=26/37).