Table 2 Patients with metabolic defects (MetD) and patients with undetected defects
| Â | Sex | Genotype | Family History | Birth | HY Onset | Treatment | Follow-up | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hypoglycaemia | Diabetes (IFG/IGT) | At Term | LGA | < 72 h | Postneonatal | Dx responsiveness | Surgery | DM | Obesity | Neurological Impairment | Duration (years) | |||
1 | F | GCK c.1363G > T; (p.V455S) | – | – | + | + | NR | + | – | – | – | + | 3 | |
2 | M | HADH recessive c.706C > T; (p.R236Ter) | – | – | + | – | – | – | + | – | – | – | – | 4 |
3 | M | GLUD1 c.978G > A; (p.R269H) | + | – | + | – | – | + | + | – | – | + | – | 17 |
4 | F | GLUD1 c.820C > T; (p.R276C) | + | – | + | – | – | + | + | – | – | – | – | 16 |
5 | M | Undetected defect | + | + | + | – | – | + | + | – | – | – | – | 10 |
6 | F | Undetected defect | – | + | + | – | + | – | + | – | – | + | – | 18 |
7 | M | Undetected defect | – | – | + | – | – | + | + | – | – | – | + | 17 |
8 | M | Undetected defect | + | + | + | – | + | – | + | – | – | – | – | 4 |
9 | M | Undetected defect | – | – | + | – | + | – | + | – | – | + | – | 8 |
10 | M | Undetected defect | – | – | + | – | – | + | + | – | – | + | – | 20 |