TABLE 5.
Spectrum of IEMs and variants in confirmed cases of newborns.
| IEM | Gender | Ethnicity | Gene | Variant 1 | Variant 2 |
| PKU | PAH | ||||
| 1 | M | Zhuang | c.1174T > A (p.F392I) | c.1223G > A (p.R408Q) | |
| 2 | M | Han | c.1223G > A (p.R408Q) | c.208_210del (p.70del) | |
| 3 | F | Han | c.611A > G (p.Tyr204Cys) | c.611A > G (p.Tyr204Cys) | |
| 4 | F | Han | c.331C > T (p.Arg111Ter) | c.728G > A (p.Arg243Gln) | |
| 5 | M | Han | c.320A > G (p.His107Arg) | c.1223G > A (p.Arg408Gln) | |
| 6 | M | Han | c.721C > T (p.Arg241Cys) | c.728G > A (p.Arg243Gln) | |
| CTLN2 | SLC25A13 | ||||
| 1 | M | Yao | c.851_854delGTAT | c.1638_1660dup23 | |
| HCY | CBS | ||||
| 1 | F | Han | c.1465C > T (p.Gln489Ter)# | c.1465C > T (p.Gln489Ter)# | |
| PCD | SLC22A5 | ||||
| 1 | M | Han | c.51C > G (p.Phe17Leu) | c.760C > T (p. Arg254Ter) | |
| 2 | M | Han | c.760C > T (p. Arg254Ter) | c.919delG (p.Val307LeufsX14)# | |
| 3 | F | Han | c.1400C > G (p.Ser467Cys) | c.1400C > G (p.Ser467Cys) | |
| 4 | F | Han | c.1195C > T (p.Arg399Try) | c.517delC (p.Leu173CysfsX3) | |
| 5 | F | Zhuang | c.51C > G (p.Phe17Leu) | c.51C > G (p.Phe17Leu) | |
| 6 | F | Han | c.51C > G (p.Phe17Leu) | c.338G > A (p.Cys113Tyr) | |
| 7 | F | Han | c.1400C > G (p.Ser467Cys) | c.839C > T (p.Ser280Phe) | |
| 8 | F | Miao | c.976C > T (p.Gln326X)# | c.505C > T (p.Arg169Trp) | |
| 9 | M | Han | c.760C > T (p. Arg254Ter) | c.760C > T (p. Arg254Ter) | |
| 10 | M | Han | c.51C > G (p.Phe17Leu) | c.51C > G (p.Phe17Leu) | |
| 11 | M | Zhuang | c.51C > G (p.Phe17Leu) | c.51C > G (p.Phe17Leu) | |
| 12 | M | Han | c.338G > A (p.Cys113Tyr) | c.338G > A (p.Cys113Tyr) | |
| SCADD | ACADS | ||||
| 1 | F | Zhuang | c.625G > A (p.Gly209Ser) | c.625G > A (p.Gly209Ser) | |
| 2 | F | Han | c.268G > A (p.Gly90Ser) | c.337G > A (p.Gly113Arg)# | |
| MCADD | ACADM | ||||
| 1 | M | Zhuang | c.580A > (p.Asn194Asp) | c.580A > (p.Asn194Asp) | |
| IVA | IVD | ||||
| 1 | F | Zhuang | c.214G > A (p.Asp72Asn) | c.1208A > G (p.Tyr403Cys) | |
| 2 | M | Han | c.548C > T (p.Ala183Val)# | c.757A > G (Thr253Ala)# | |
| 3 | M | Zhuang | c.149G > A (p.Arg50His) | c.1199A > G (p.Tyr400Cys) | |
| GA- I | GCDH | ||||
| 1 | M | Zhuang | c.532G > A (p.Gly178Arg) | c.532G > A (p.Gly178Arg) | |
| MMA | MMACHC | ||||
| 1 | F | Han | c.315C > G (p.Tyr105Ter) | 1076bp del# | |
| PA | PCCB | ||||
| 1 | F | Zhuang | c.1559-4_1559-3insAGAAGCA | c.1594C > T(p.Arg532Cys) | |
| HMGCLD | HMGCL | ||||
| 1 | F | Dong | c.252 + 1G > A | c.501C > G (pTyr.167Ter)# |
The symbol “#” in superscript represents unreported, and “–” represents no mutation or not checked out.