Table 1 Main characteristics of patients
From: Characterization and treatment monitoring of ureagenesis disorders using stable isotopes
Patient ID | Gender | Neonatal onset yes: 1; no: 0 | Asympt: 0 Sympt: 1 | Affected gene | Variant (s) | Age at assay (y) | NH3 at diagnosis (µmol/L) | Additional Information |
|---|---|---|---|---|---|---|---|---|
CPS1D_1 | F | 1 | 1 | CPS1 (NM_001875.5) | c.2291C>T, p.(Pro764Leu); c.3935dup, p.(Met1312IlefsTer11) | 0.34 | 289 | Low protein diet (1.4 g/kg/d) |
CPS1D_2 | F | 0 | 0 | c.4002G>A, p.(Glu1334 = ) splicing; c.4229G>A, p.(Trp1410Ter) | 31.8 | 117 | ||
CPS1D_3A, B, C | M | 1 | 1 | c.3520C>T, p.(Arg1174Ter); c.4229G>A, p.(Trp1410Ter) | 0.95, 1.01, 1.20 | 2760 | A: pre-LTX, B: 21 and C: 71 d post-LTx | |
OTCD_1 | M | 0 | 1 | OTC (NM_000531.6) | c.604C>T, p.(His202Tyr) | 10.7 | 344 | |
OTCD_2 | M | 0 | 1 | c.394T>C, p.(Ser132Pro) | 13.6 | 487 | ||
OTCD_3 | M | 0 | 1 | c.264A>T, p.(Lys88Asn) | 17.9 | 557 | ||
OTCD_4 | M | 0 | 1 | c.622G>A, p.(Ala208Thr) | 74.4 | 22 | Low protein diet (42 g/d) | |
OTCD_5^^ | M | 0 | 1 | c.622G>A, p.(Ala208Thr) | 82.5 | 26 | Low protein diet (35 g/d) | |
OTCD_6 | M | 0 | 1 | c.264A>T, p.(Lys88Asn) | 3.9 | 42 | Protein in diet: 26 g/d, 1.6 g/kg/d | |
OTCD_7 | M | 0 | 1 | deep intronic c.540 + 265G > A | 2.1 | 52.2 | positive NBS for low citrulline (3.2 cut off 7.1) | |
OTCD_8* | M | 0 | 1 | c.264A>T, p.(Lys88Asn) | 11.3 | 133 | Protein in diet: 38 g/d, 0.87 g/kg/d | |
OTCD_9* | M | 0 | 1 | c.264A>T, p.(Lys88Asn) | 14.0 | 102 | Protein in diet: 43 g/d, 0.6 g/kg/d | |
OTCD_10 | M | 0 | 1 | c.365A>G, p.(Glu122Gly) | 2.3 | |||
OTCD_11 | M | 1 | 1 | c.594C>A, p.(Asn198Lys) | 0.77 | |||
OTCD_12 | M | 0 | 1 | c.394T>C, p.(Ser132Pro) | 34.7 | 453 | ||
OTCD_13 | M | 0 | 1 | c.216 + 1G > A, splicing | 2.8 | 449 | ||
OTCD_14 | M | 1 | 1 | c.386G>A, p.(Arg129His) | 16.6 | 688 | Liver OTC activity showing 40% of WT, neonatal onset on day 6 | |
OTCD_15 | F | 0 | 1 | c.958C>T, p.(Arg320Ter) | 6.9 | 417 | ||
OTCD_16- | F | 0 | 1 | c.433C>T, p.(Gln145Ter) | 35.9 | 64 | ||
OTCD_17 | F | 0 | 1 | c.2T>C; p.? | 4.0 | 614 | ||
OTCD_18- | F | 0 | 1 | c.718-1G > A, splicing | 5.3 | 340 | ||
OTCD_19_A, B, C | F | 0 | 1 | c.274C>T, p.(Arg92Ter) | 8.5, 8.6, 8.6 | 208 | ||
OTCD_20 | F | 0 | 1 | not identified | 17.7 | 214 | ||
OTCD_21^^ | F | 0 | 1 | c.622G>A, p.(Ala208Thr) | 53.0 | 26 | Low protein diet (45 g/d) | |
OTCD_22# | F | 0 | 0 | c.698C>T, p.(Ala233Val) | 1.3 | never HA | Plasma OTC activity (68% of the median of female controls) | |
OTCD_23_A#,B | F | 0 | 0 | c.698C>T, p.(Ala233Val) | 0.08, 1.4 | never HA | Plasma OTC activity and 37% of the median of female controls | |
OTCD_24- | F | 0 | 0 | c.433C>T, p.(Gln145Ter) | 2.3 | |||
OTCD_25- | F | 0 | 0 | c.718-1G > A, splicing | 33.8 | never HA | ||
OTCD_26_A, B | F | 0 | 0 | c.674C>T, p.(Pro225Leu) | 34.2, 35.1 | 51 | mother of OTC male with fatal neonatal onset | |
OTCD_27 | F | 0 | 0 | c.386G>A, p.(Arg129His) | 35.08 | never HA | ||
OTCD_28* | F | 0 | 0 | c.674C>T, p.(Pro225Leu) | ||||
OTCD_29* | F | 0 | 0 | c.674C>T, p.(Pro225Leu) | ||||
ASSD_1A, B | M | 1 | 1 | ASS1 (NM_054012.4) | c.1168G>A, p.(Gly390Arg) homozygous | 0.21, 0.38 | 2262 | A: pre-LTX, B: 42 d post LTx |
ASSD_2 | M | 0 | 0 | c.535T>C, p.(Trp179Arg); c.917T>G, p.(Val306Gly) | 8.6 | 8.8 | ||
ASSD_3 | M | 0 | 0 | c.535T>C, p.(Trp179Arg) homozygous | 4.4 | 8.4 | Protein in diet: 25 g/d, 1.3 g/kg/d | |
ASSD_4 | M | 0 | 0 | c.535T>C, p.(Trp179Arg); c.827T>A, p.(Met276Lys) | 4.8 | never HA | ||
ASLD_1 | F | 1 | 1 | ASL (NM_000048.4) | c.470G>T, p.(Gly157Val); r.568_602del, p.(Val190TrpfsTer33) | 0.16 | 281 | |
ASLD_2 | F | 1 | 1 | c.707G>A, p.(Arg236Gln) homozygous | 5.9 | 317 | ||
ASLD_3A, B | F | 1 | 1 | c.719-1G > A; splicing homozygous | 0.48, 0.81 | 810 | A: pre-LTX, B: 100 d post-LTx | |
ASLD_4A, B | F | 1 | 1 | c.436C>T, p.(Arg146Trp) homozygous | 7.4, 8.6 | 1261 | A: pre-LTX, B: 1 year post-LTx | |
ASLD_5A, B | M | 1 | 1 | c.479A>C, p.(His160Pro) homozygous | 0.87, 1.1 | 1052 | A: pre-LTX, B: 30 d post-LTx | |
ASLD_6_A, B | M | 1 | 1 | c.1128C>A, p.(Tyr376Ter) homozygous | 0.25, 1. 6 | 204 | A: pre-LTX, B: 6 m post-LTx | |
ASLD_7A, B | M | 1 | 1 | c.1366C>G, p.(Arg456Gly) homozygous | 17.6, 18.1 | na | ||
ARGD_1 | M | 0 | 1 | ARG1 (NM_000045.4) | c.306-506A > G, r.305_306ins115, p.(Leu103LysfsTer6) | 2.8 | 110 | |
ARGD_2 | M | 0 | 1 | not known | 7.8 | not known | ||
ARGD_3A, B | M | 1 | 1 | c.647ins32bp, p.?; c.871C>T, p.(Arg291Ter) | 13.9, 14.4 | >400 | Patient on ERT | |
CTND_1 | F | 1 | 1 | SLC25A13 (NM_014251.3) | c.1628dup, p.(Ile544TyrfsTer24) homozygous | 2.5 | not elevated | |
CTND_2+ | F | 0 | 1 | c.1311 + 1G > A, splicing; c.1348del, p.(Glu450LysfsTer58) | 11.5 | not elevated | ||
CTND_3+ | M | 0 | 1 | c.1311 + 1G > A, splicing; c.1348del, p.(Glu450LysfsTer58) | 17.4 | not elevated | ||
CTND_4 | M | 1 | 1 | c.173_174del, p.(Val58GlyfsTer24); c.1813C>T, p.(Arg605Ter) | 4.9 | not elevated | ||
CTND_5 | M | 1 | 1 | c.74C>A, p.(Ala25Glu); c.1078C>T, p.(Arg360Ter) | 9.5 | not elevated | ||
CTND_6 | M | 0 | 1 | c.1177 + 1G > A, p.(Ala340_Arg392del); c.1763G>A, p.(Arg588Gln) | 52.8 | not known | ||
HHH_1A, B, C | M | 1 | 1 | SLC25A15 (NM_014252.4) | c.535C>T, p.(Arg179Ter) homozygous | 0.02, 0.02, 1.8 | 910 | |
HHH_2 | M | 0 | 0 | c.380C>T, p.(Thr127 Met) homozygous | 9.0 | not elevated | ||
PA | M | 1 | 1 | PCCA/B | - | 22.3 | slightly elevated | |
HE | M | 0 | 1 | - | - | 68.2 | 186 | chronic liver disease, adult, secondary HA, single event, hepatic encephalopathy |
LPI | M | 0 | 1 | SLC7A7 (NM_003982.4) | c.726G>A, (p.Trp242Ter) homozygous | 9.6 | 57 | |
TMEM70D | M | 0 | 1 | TMEM70 (NM_017866.6) | c.317-2A > G, splicing homozygous | 8.3 | 120 | |
DLDD | M | 0 | 1 | DLD (NM_000108.5) | c.685G >T, p.(Gly229Cys) homozygous | 18.5 | 211 |
