Gender | First symptoms / Age at first symptoms | SMPD1 variants (NM_000543) | First available liver biochemistry results | Outcome | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Age | TB | DB | ALT | AST | GGT | |||||
P1 | Female | Failure to thrive / 6 months | c.1486 + 5G > C / c.1144C > T (p.L382F) | 27 months | 5.4 | 0.4 | 88 | 115 | 18 | Lost to follow-up |
P2 | Male | Abdominal distention / 11 months | c.1458 T > G (p.S486R) / c.1805G > A (p.R602H) | 15 months | 17.3 | 6.3 | 297 | 412 | 61 | HCST at 4 years old. Alive, 5 years and 3 months |
P3 | Female | Jaundice / 1 month | c.1458 T > G (p.S486R) / c.1343C > T (p.Y448C) | 5 months | 47.5 | 25.3 | 113 | 203 | 128 | Died, 3 years and 1 months |
P4 | Male | Jaundice / 1 month | c.1458 T > G (p.S486R) / c.1553C > T (p.T518I) | 4 months | 168.0 | 114.5 | 19 | 221 | 197 | Died, 2 years and 6 months |
P5 | Male | Abdominal pain / 26 months | c.1489 T > C (p.Y497H) / c.1489 T > C (p.Y497H) | 26 months | 15.3 | 9.9 | 105 | 97 | 33 | Alive, 4 years and 11 months |
P6 | Male | Failure to thrive / 6 months | c.1624C > T (p.R542X) / c.1458 T > G (p.S486R) | 6 months | 7.7 | 2.7 | 246 | 346 | na | Alive, 1 year and 9 months |
P7 | Male | Jaundice / 1 month | c.1493G > A (p.R498H) / c.1493G > C (p.R498P) | 1.5 months | 83.5 | 36.7 | 146 | 438 | 356 | Died, 3 years and 10 months |