Table 1.
Summary of all published cases of the early infantile SLC19A3 gene defect.
| S. no. | References | No. of cases | Origin | M:F | Age of onset | SLC19A3 gene mutation | Treatment with biotin | Treatment with thiamine | Prognosis |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Kevelam et al8 | 7 | Canada Europe Lebanon Morocco |
NA | Mean: 2.7 mo | Canadian: [c.68G>T(p.Gly23Val); r.1173_1314del(p.Gln393*)] European: [c.541T>C(p.Ser181Pro); c.1154T>G(p.Leu385Arg)] European: [c.507C>G(p.Tyr169*); c.527C>A(p.Ser176Tyr)] Lebanese: c.895_925del(p.Val299fs) Moroccan: c.1332C>G(p.Ser444Arg) |
Yes | No | All died |
| 2 | Gerards et al9 | 11 | Morocco | 8:3 | 1 mo | c.20C>A(p. p.Ser7*) | Yes | Yes | All died |
| 3 | Pérez-Dueñas et al1 | 1 | Morocco | M | 4 wk | c.68G>T(p.Gly23Val) | 10 mg/d | 20 mg/kg/d | Excellent response to biotin and thiamine |
| 4 | Sremba et al10 | 1 | Mexico (mixed ancestry) | F | 6 wk | c.74dupT(p. Ser26LeufsX19) c.81_82dup(p.Met28fs) |
No | 10 mg/kg/d | Died at 12 y |
| 5 | Haack et al11 | 2 | Turkey | M | 18 d | c. 982del(p. Ala328Leufs*10) | 10 mg/kg/d | 15 mg/kg/d | Improved dramatically |
| 6 | Ygberg et al12 | 2 | Sweden | M | 5 wk | c.74dupT/p. Ser26LeufsX19 c.1403delA |
10 mg/kg/d | 60 mg/kg/d | First patient died, whereas second survived with dystonic symptoms |
| 7 | Pronicka et al13 | 1 | Poland | M | Birth | c.74dupT(p.Ser26LeufsX19) | Yes | Yes | Died |
| 8 | Alfadhel3 | 1 | Saudi | M | 2 mo | c. 91dupT, p. Val65Glyfs*160 | Yes | Yes | Died |
| Total | 26 | 13:4 | 1-3 mo | ||||||
Abbreviations: F, female; M, male; NA, not available.