TABLE 2.
Disease spectrum of 30 cases of genetic metabolic diseases screened from 111,986 newborns.
Categories | Total | Incidence rate | IEM | Cases | Incidence rate |
AAMD | 8 | 1/13,998 | PKU | 6 | 1/18,664 |
CTLN2 | 1 | 1/111,986 | |||
HCY | 1 | 1/111,986 | |||
FAMD | 15 | 1/7,466 | PCD | 12 | 1/9,332 |
SCADD | 2 | 1/55,993 | |||
MCADD | 1 | 1/111,986 | |||
OAMD | 7 | 1/15,998 | IVA | 3 | 1/37,329 |
MMA | 1 | 1/111,986 | |||
PA | 1 | 1/111,986 | |||
GA-1 | 1 | 1/111,986 | |||
HMGCLD | 1 | 1/111,986 |