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.