. Author manuscript; available in PMC: 2024 Nov 1.

Published in final edited form as: Mol Genet Metab. 2023 Sep 11;140(3):107699. doi: 10.1016/j.ymgme.2023.107699

Table 1:

Characteristics of the study population that underwent PBA metabolite testing (*percentages rounded to the nearest whole number).

Characteristic	No. (%)*
Age at First Assay
<2 years	88 (23)
2–18 years	182 (47)
>18 years	117 (30)
Diagnoses
Diagnosis information not available	233 (60)
Diagnosis information available	154 (40)
OTCD	80 (52)
ASS1D	29 (19)
ARG1D	19 (12)
ASLD	13 (8)
CPS1D	5 (3)
Other	8 (5)
Total Individuals	387
Number of assays per Individual
Individuals with 1 assay	152 (39)
Individuals with 2 assays	71 (18)
Individuals with 3–5 assays	104 (27)
Individuals with >5 assays	60 (16)
Total number of assays	1255