Table 1.
Clinical and neuroimaging features of children with Glutaric aciduria type 1
| Patient | Age of onset &Sex | Age at diag nosis | Cons Anguinity | Acute meta bolic crisis | Large Head | DD | Seiz ures | Movement Disorder | MRI/CT - Fronto temporalatrophy | BG changes | SDH | WM Changes | Period of follow up |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1. | 6m Male | 18m | -- | + | + | + | -- | Dystonia | + | + | -- | -- | 24m |
| 2. | 8m Male | 11m | + | + | + | -- | -- | Dystonia Generalised | + | + | + | -- | 36m |
| 3. | 16m Female | 18m | + | + | -- | -- | -- | Dystonia UL Spastic quadriparesis | + | + | -- | -- | 30m |
| 4. | 6m Male | 7m | + | + | + | -- | + | Dystonia Spastic quadriparesis | + | GP | + | -- | 6m |
| 5. | 5m Male | 7m | -- | -- | + | -- | + | -- | + | -- | -- | -- | 12m |
| 6. | 6m Male | 7m | + | + | + | -- | + | Dystonia UL | + | + | -- | -- | 12m |
| 7. | 4m Female | 8m | -- | + | -- | -- | -- | Dystonia UL | + | + | -- | -- | 18m |
| 8. | 6m Female | 12m | + | + | -- | -- | -- | Dystonia UL | + | + | -- | -- | 10m |
| 9. | 11m Female | 15m | + | -- | + | + | -- | Dystonia L UL | + | + | -- | -- | 18m |
| 10. | 10m Female | 12m | + | + | + | -- | -- | Oro facial dystonia Choreoathetosis | + | + | -- | -- | 12m |
| 11. | 6m Male | 6m | + | -- | -- | -- | + | -- | + | -- | -- | -- | 3m |
| 12. | 12m Male | 11y | -- | -- | + | + | -- | Generalised dystonia,Chorea upper limbs, bipyramidal signs | + | + | -- | + | 12m |
| 13. | 12m Male | 10y | -- | + | + | -- | + | Dystonia UL Orofacial dyskinesia Spastic quadriparesis | + | + | -- | + | 24m |
| 14. | 12m Female | 10y | -- | + | + | -- | + | Dystonia UL Spastic quadriparesis Dysarthria | + | Caudate putamen atrophy+ | -- | + | 8m |