From: Inherited metabolic disorders in a cohort of Egyptian children
Disorder | Patients, no. | Gender, M/F | Family, no. | + Family His. (similar cases) | Sibl. death | Positive cons. | Range of the ages at diagnosis (months) | |
---|---|---|---|---|---|---|---|---|
Organic acidemia 200/320 | MMA | 48 | 32/16 | 48 | 16 | 20 | 32 | 11–32 months |
GA | 40 | 24/16 | 8 | 6 | 3 | 6 | 3–122 months | |
IVA | 40 | 32/8 | 8 | 2 | 2 | 6 | 12–156 months | |
PA | 32 | 8/24 | 8 | 2 | 1 | 6 | 2–17months | |
OA | 24 | 16/8 | 4 | 2 | 0 | 4 | 3–16months | |
MCG | 16 | 12/4 | 4 | 0 | 3 | 2 | 6–15months | |
Amino acido-pathies 80/320 | MSUD | 32 | 16/16 | 24 | 8 | 4 | 16 | 15 days to 41 months |
PKU | 24 | 16/8 | 16 | 16 | 8 | 16 | 4–96 months | |
Homocystinuria | 16 | 8/8 | 16 | 0 | 4 | 8 | 12–51 months | |
Non-ketotic hyper-glycinemia | 8 | 8/0 | 8 | 0 | 4 | 0 | 2–10 months | |
FAO defect 24/320 |  | 24 | 16/8 | 24 | 0 | 12 | 16 | 5–24 months |
LA 16/320 |  | 16 | 8/8 | 16 | 0 | 8 | 8 | 14–51 months |