From: Audiological and otologic manifestations of glutaric aciduria type I
Case no | Sex | Age | Age at treatment initiation | Clinical presentation | OAE | Audiogram | Hearing grading | Newborn hearing screening | Encephalo-pathic crisis | Macro-cephaly | Disability score | ICU admission |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 2 | 8 days | Asymptomatic | P/A | SF | Mild | Pass | No | N/A | 3 | Yes |
2 | M | 2 | 6 days | Asymptomatic | P/P | SF | Slight | pass | No | No | 3 | No |
3 | M | 3 | 8 days | Asymptomatic | P/P | SF | Slight | Pass | Yes | Yes | 3 | Yes |
4 | F | 3 | 8 days | Dystonia/NG feeding | A/P | ABR | Mild | Pass | Yes (4Â m) | No | 8 | Yes |
5 | F | 9 | 9 days | Seizure, developmental delay | B/P | SRT | Mild | Pass | No | No | 6 | No |
6 | F | 3 | 8 days | Seizure | P/P | SF | Moderate | Pass | Yes | Yes | 5 | Yes |
7 | F | 4 | 8 days | Asymptomatic | P/B | PTA | Slight | Pass | No | No | 3 | Yes |
8 | M | 7 | 6 days | Asymptomatic | Â | PTA | WNL | Pass | No | Yes | 3 | No |
9 | F | 11 | 9 days | Mild developmental delay | B/B | PTA | Slight | Pass | No | Yes | 4 | No |
10 | F | 16 | 1Â months | Very mild involuntary movement and unstable gait | B/B | PTA | WNL | Pass | No | Yes | 3 | No |
11 | F | 11 | 10 days | Optic atrophy, developmental delay | B/B | PTA | Slight | Pass | No | Yes | 3 | No |
12 | F | 7 | 7 days | Asymptomatic | B/B | PTA | Slight | Pass | No | No | 3 | No |
13 | F | 26 | 12 years | Asymptomatic | P/P | PTA | WNL | Nil | No | No | 4 | Yes |