Table 3 ZSDs patients’ characteristic
Patient | Age (years) | Clinical features | C26:0 μmol/L (nv 0.25–0.65) | C26:0/C22:0 ratio (nv 0.01–0.03) | C26:0-LysoPC μmol/L (nv < 0.08) | Treatment |
|---|---|---|---|---|---|---|
1 | 17 | Neonatal hepatopathy, severe cognitive and motor disability, hearing and visual impairment | 2.54 | 0.10 | 0.52 | Calcium, Vitamin D, Oil mixture GTE/GTO |
2 | 17 | Neurodevelopmental delay, severe cognitive and motor disability, hearing and impairment, epilepsy | 4.05 | 0.13 | 0.98 | Carbamazepine, clobazam, bisphosphonate Vitamins (Vit E, D, Fe), CoQ, DHA |
3 | 8 | Neurodevelopmental delay, cognitive disability, hearing and visual impairment, hepatomegaly | 4.06 | 0.14 | 1.03 | NAC, calcium and vitamin D |