Table 1 Related demography and outcome by mutations of neonatal encephalopathy patients.
From: A Japanese patient with neonatal biotin-responsive basal ganglia disease
Reference | Mutations | Age at onset | Consanguinity | treatment | Outcome |
|---|---|---|---|---|---|
This case | c. 384_387del, p.(Tyr128fs) | 28 days | No | Biotin and thiamine | Bedridden |
/c.265A>C, p.(Ser89Arg) | |||||
Yamada et al.14 | c.958G>C, p.(Glu320Gln) | 1M | Yes | NP | Bedridden |
/c.958G>C, p.(Glu320Gln) | |||||
Perez-Duenas et al.15 | c.68G>T, p.(Gly23Val) | 1M | ND | Biotin and thiamine | Gait |
/c.68G>T, p.(Gly23Val) | |||||
Gerards et al.16 | c.20C>A, p.Ser7Ter | 1M | No | NP | Death |
/c.20C>A, p.Ser7Ter | |||||
Haack et al.17 | c.982del, p.(Ala328Leufs*) | neonatal | Yes | NP | Death |
/c.982del, p.(Ala328Leufs*) | |||||
Haack et al.17 | c.982del, p.(Ala328Leufs*) | 18 days | Yes | Biotin and thiamine | Normal |
/c.982del, p.(Ala328Leufs*) | |||||
Kamasak et al.18 | c.623_624insA, p.(Ser179fs) | 30 days | No | Thiamine | Responds to mother |
/c.623_624insA, p.(Ser179fs) | |||||
Kamasak et al.18 | c.620delinsAA, p.(Ala178fs) | 30 days | No | Biotin and thiamine | ND |
/c.620delinsAA, p.(Ala178fs) | |||||
Kamasak et al.18 | c.894T>G, p. (Tyr298*)/- | 23 days | No | Biotin and thiamine | Death |
Kılıç et al.19 | p.His200Serfs*,c.(597insThr) | 20 days | Yes | Biotin and thiamine | Death |
/p.His200Serfs*, c.(597insThr) | |||||
Kılıç et al.19 | c.894T>G, p.(Tyr298*) | 21 days | Yes | Biotin and thiamine | Quadriplegia |
/c.894T>G, p.(Tyr298*) |
