Table 1 Clinical Features of subjects with ABAT Deficiency
From: Personalized medicine approach confirms a milder case of ABAT deficiency
Family 1 | Family 2 | Family 3 | Family 4 | |||||
|---|---|---|---|---|---|---|---|---|
Subject 1 | Subject 2 | Subject 3 | Subject 4 | Subject 5 | Subject 6 | Subject 7 | ||
ABAT Variants | c.454C>T, p.Pro152Ser ; c.1393G>C, p.Gly465Arg | c.631C>T, p.Leu211Phe ; c.631C>T, p.Leu211Phe | c.659G>A,p.Arg220Lys ; c.1433T>C, p.Leu478Pro | c.275G>A, p.Arg92Gln ; c.199-?_316+?del, p.Asn67ValfsTer8 | ||||
Gender | M | F | M | F | F | M | F | |
Age at last follow-up | 2 yr | 7 yr | 5 yr | 1 yr | 2 | 12 months | 7 yr | |
Current age | 2 yr | deceased | 7 yr | deceased | deceased | deceased | - | |
Age of clinical presentation | 6 mo | 3 mo | 2 mo | 2 mo | birth | birth | 7 mo | |
Age at death | - | 7 yr | - | 1 yr | 2 yr | 12 mo | - | |
Ophthalmologic | Cortical visual impairment | No | Yes | Yes | Yes | NA | NA | NA |
Optic nerve atrophy | No | Yes | Yes | Yes | NA | NA | NA | |
Developmental Milestones | Global developmental delays | Yes | Severe | Severe | Severe | Severe | Severe | Severe |
Hold up head | 2 years | No | No | No | No | No | No | |
Roll over | 9 mo | No | No | No | No | No | No | |
Sit up | 12 mo (c assistance) | No | No | No | No | No | No | |
Ambulation | No | No | No | No | No | No | No | |
Expressive language | coos/babbles | No | No | No | No | No | No | |
Neurologic | Hypotonia | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Abnormal movements | Yes | No | No | No | No | No | No | |
Hypersomnia | Yes | Yes | Yes | Yes | Yes | Yes | Yes | |
Seizures, age of onset | No | 3 mo | 4 mo | 4 mo | birth | birth | 7 mo | |
Seizures, controlled by medication | - | No | No | No | No | No | No | |
EEG | multi-focal spikes, diffuse slowing | Hypsarrhythmia at 3 mo | Normal at 3 mo, Hypsarrhythmia at 6 mo | Normal at 3 mo, Hypsarrhythmia at 6 mo | multi-focal spikes, diffuse slowing | multi-focal spikes, diffuse slowing | spike-wave, diffuse slowing | |
Cranial MRI | Atrophy | No | Yes | Yes | Yes | - | - | Yes |
Decreased white matter | No | Yes | Yes | Yes | - | - | Yes | |
Hypomyelination | Yes | Yes | Yes | Yes | - | - | Yes | |
Metabolic | GABA levels | Elevated in CSF | Elevated by brain MRS | Elevated by brain MRS | Elevated by brain MRS | Elevated in CSF | - | Elevated by brain MRS |