Families | I | II | III |
---|---|---|---|
Patients | MT | BM | SA |
Origin | Bizerte | Medenine | Jendouba |
Gender | F | M | M |
consanguinity | 1st degree | 1st degree | 1st degree |
Age (Years) | 3 | 12 | 9 |
Age of onset (Months) | 8 | 3 | 2 |
Age of diagnosis (months) | 8 | 5 | 4 |
Hypoglycemia mmol/l VU : 5.5 mmol/L | 2.09 | 1.1 | 0.55 |
Lactatemia mmol/L VU : 1.7 mmol/L | 12.17 | 5.96 | 3.55 |
Neutropenia (/mm3) VU : 188–8000/mm3 | 1550 | 500 | 590 |
Hepatomegaly | + | + | + |
Body heat | 39 | Nl, 37 | Nl, 37 |
Growth retardation | + | + | + |
Genotype | p.R300H/ p.R300H | p.R300H/ p.R300H | p.W393X/ p.W393X |