Table 1 Basic information of the 575 unique IEMs patients identified in Chinese population
IEMs (Gene) | Mode of identification | Zygosity | ||||
|---|---|---|---|---|---|---|
Newborn screening, n (%) | Symptomatic presentation, n (%) | Homozygous, n (%) | Compound heterozygous, n (%) | Heterozygous, n (%) | ||
MCADD (ACADM) | 57 (87.69) | 8 (12.31) | 15 (23.08) | 40 (61.54) | 10 (15.38) | |
VLCADD (ACADVL) | 51 (60.71) | 33 (39.29) | 4 (4.76) | 74 (88.10) | 6 (7.14) | |
BKD (ACAT1) | 11 (44.00) | 14 (56.00) | 5 (20.00) | 20 (80.00) | 0 (0.00) | |
CTLN1 (ASS1) | 11 (45.83) | 13 (54.17) | 4 (16.67) | 19 (79.17) | 1 (4.17) | |
MSUD (BCKDHA) | 1 (3.45) | 28 (96.55) | 4 (13.79) | 18 (62.07) | 7 (24.14) | |
MSUD (BCKDHB) | 5 (10.64) | 42 (89.36) | 10 (21.28) | 34 (72.34) | 3 (6.38) | |
BTDD (BTD) | 3 (13.04) | 20 (86.96) | 5 (21.74) | 18 (78.26) | 0 (0.00) | |
CPSID (CPS1) | 1 (4.35) | 22 (95.65) | 1 (4.35) | 22 (95.65) | 0 (0.00) | |
GAI (GCDH) | 32 (33.68) | 63 (66.32) | 24 (25.26) | 68 (71.58) | 3 (3.16) | |
HLCSD (HLCS) | 2 (5.71) | 33 (94.29) | 14 (40.00) | 19 (54.29) | 2 (5.71) | |
IVA (IVD) | 29 (58.00) | 21 (42.00) | 4 (8.00) | 41 (82.00) | 5 (10.00) | |
PA (PCCA) | 11 (32.35) | 23 (67.65) | 4 (11.76) | 22 (64.71) | 8 (23.53) | |
PA (PCCB) | 17 (41.46) | 24 (58.54) | 11 (26.83) | 25 (60.98) | 5 (12.19) | |
Total | 231 (40.17) | 344 (59.83) | 105 (18.26) | 420 (73.04) | 50 (8.70) | |