From: Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome
Subject* | Age (y) | Sex | GLUD-1 mutation‡ | Treatment | Self-reported neurodevelopmental history |
---|---|---|---|---|---|
1 | 32 | F | Ser445Leu§ | Pancreatectomy, age 2y10mo | Normal neurodevelopment |
2 | 16 | M | His262Tyr | DZ 9.5 mg/kg/day | ADHD |
3* | 27 | F | Ser448Pro | DZ 2.5 mg/kg/day | Language delay; learning/processing disorder; memory issues |
4* | 24 | F | Ser448Pro | DZ 1 mg/kg/day | Learning/processing disorder |
5* | 56 | M | Ser448Pro | None | Memory issues |
6 | 18 | M | Gly446Val | DZ 4 mg/kg/day | Normal neurodevelopment |
7 | 24 | F | Arg221Cys§ | DZ 1 mg/kg/day | Gross motor and language delay; learning disorder |
8† | 13 | F | Ala447Thr | DZ 5 mg/kg/day | Learning disorder; memory issues |
9† | 38 | M | Ala447Thr | None | Developmental delay |
10 | 28 | M | || | Pancreatectomy, age 2–3y | Language delay; ADHD; memory issues |
11 | 28 | F | || | DZ 5 mg/kg/day | Language delay; learning disorder; ADHD |
12† | 13 | F | Ala447Thr | DZ 7 mg/kg/day | Learning disorder |