Table 1.
Clinical and genetic characteristics of LSFC patients.
| LSFC Patients | Sex | Age | Number of acidosis crisis | Clinical presentation | Mutation in the LRPPRC gene |
|---|---|---|---|---|---|
| 1 | M | 25 | >10 | severe psychomotor delay, hypotonia, non autonomous | p.Ala354Val/p.Cys1,277Xdel8 |
| 2 | M | 25 | 0 | severe psychomotor delay, hypotonia, non autonomous | p.Ala 354Val |
| 3 | F | 23 | 1 | severe psychomotor delay, hypotonia, non autonomous | |
| 4 | M | 6 | 1 | mild psychomotor delay, autonomous | |
| 5 | F | 17 | 0 | mild psychomotor delay, autonomous | |
| 6 | F | 8 | 0 | mild psychomotor delay, autonomous | |
| 7 | F | 4 | 1 | moderate psychomotor delay, autonomous | |
| 8 | F | 21 | 3 | moderate psychomotor delay, hypotonia, semi autonomous | |
| 9 | M | 5 | 0 | mild psychomotor delay | |
| 10 | M | 2 months | 1 | NA | |
| 11 | M | 12 WA | – | NA | |
| 12 | F | 19 WA | – | NA |
WA: week of amenorrhea. NA: not applicable.