Table 1 Clinical, biochemical and genetic characteristics of the siblings
symbol | Age of onset | Gender | Clinical features | DBS glycinea (μmol/l) | Plasma glycineb (μmol/l) | CSF glycinec (μmol/l) | CSF/plasma ratiod | Genotype | Evolution |
|---|---|---|---|---|---|---|---|---|---|
II-1 | Normal | M | Normal | ND | ND | ND | ND | c.2680A > G | Alive at 6y |
II-2e | Neonatal (2nd day) | M | Lethargy hypotonia seizures apnea | 1711.17 | ND | ND | ND | c.2680A > G/ Exon 3 Deletion | Died at 11d |
II-3 | Neonatal (2nd day) | M | Lethargy hypotonia seizures apnea hiccup | 1226.96 | 1587.87 | 260.2 | 0.164 | c.2680A > G/ Exon 3 Deletion | Died at 13d |
II-4 | Neonatal (3nd day) | F | Lethargy hypotonia seizures hiccup | 971.01 | 1038.25 | 157.2 | 0.151 | c.2680A > G/ Exon 3 Deletion | Alive at 7 m; Severe mental retardation, frequent seizures |