Summary of the neurological outcome of patients with methylmalonic acidaemia
| Cobalamin responsive | Cobalamin non-responsive | |||
|---|---|---|---|---|
| Early onset | Late onset | |||
| Illness severity | ||||
| Hyperammonaemia at presentation | 1/6 | 9/20 | 1/9 | |
| Severity score, median (⩾ 95% CI1-150) | 1 (1 to 2) | 6 (5 to 7) | 4 (1 to 6) | |
| Neurological outcome | ||||
| Delayed early development‡ | 2/6 | 14/18 | 3/9 | |
| Full scale IQ, median (⩾95% CI) | 100 (77 to 102) | 75 (65 to 84) | 101 (83 to 125) | |
| Abnormal neurological signs | 2/6 | 7/18 | 6/9 | |
| 1 spastic diplegia | 1 spastic teraparesis | |||
| 1 dyspraxia | 1 dyspraxia | 4 dyspraxia | ||
| 4 dystonia | 1 dystonia | |||
| 1 complex† | 1 complex† | |||
| Abnormal neuroimaging | 1/3 | 9/13 | 2/6 | |
| 1 pallidal LD | 2 pallidal LD | 2 pallidal LD | ||
| 3 hemispheric LD | ||||
| 4 cortical atrophy | ||||
↵1-150 ⩾ 95% confidence interval for the median; †see text for details; ‡younger than 2 years.
LD, low density.