TABLE 4.
Disease spectrum of 19 children with genetic metabolic diseases screened from 7,461 high-risk infants.
Categories | Total | Incidence rate | IEM | Cases | Incidence rate |
AAMD | 8 | 1/933 | CTLN2 | 4 | 1/1,865 |
OTC | 2 | 1/3,731 | |||
CPS1 | 1 | 1/7,461 | |||
H-TYR | 1 | 1/7,461 | |||
FAMD | 6 | 1/1,244 | PCD | 2 | 1/3,731 |
SCADD | 2 | 1/3,731 | |||
CPT2 | 1 | 1/7,461 | |||
MADD | 1 | 1/7,461 | |||
OAMD | 5 | 1/1,492 | GA-1 | 2 | 1/3,731 |
MMA | 1 | 1/7,461 | |||
PA | 1 | 1/7,461 | |||
IVA | 1 | 1/7,461 |