TABLE 6.
Spectrum of IEMs and variants in confirmed cases of high-risk infants.
| IEM | Gender | Ethnicity | Gene | Variant 1 | Variant 2 |
| CTLN2 | SLC25A13 | ||||
| 1 | F | Han | c.851_854delGTAT | c.851_854delGTAT | |
| 2 | M | Han | c.851_854delGTAT | c.851_854delGTAT | |
| 3 | F | Zhuang | c.851_854delGTAT | c.851_854delGTAT | |
| 4 | M | Zhuang | c.851_854delGTAT | c.851_854delGTAT | |
| OTC | OTC | ||||
| 1 | F | Zhuang | IVS7-1G > A | – | |
| 2 | M | Han | 2-7exon del | – | |
| H-TYR | HPD | ||||
| 1 | F | Yao | c.93 + 1delG# | c.941T > C (p.Ile314Thr) | |
| CPS1 | CPS1 | ||||
| 1 | M | Han | c.1649C > T (p.Thr550Met) | c.858G > C (p.Lys286Asn) | |
| PCD | SLC22A5 | ||||
| 1 | F | Dong | c.976C > T (p.Gln326Ter)# | c.976C > T (p.Gln326Ter)# | |
| 2 | M | Zhuang | c.1411C > T (p.Arg471Cys) | c.1195C > T (p.Arg399Try) | |
| SCADD | ACADS | ||||
| 1 | M | Han | c.1148G > A (p.Arg383His) | c.1031A > G (p.Glu344Gly) | |
| 2 | F | Zhuang | c.320G > A (p.Arg107His) | c.1195C > T (p.Arg399Trp)# | |
| CPT2 | CPT2 | ||||
| 1 | F | Han | c.886C > T (p.Arg296Ter) | c.1148T > A (p.Phe383Tyr) | |
| MADD | ETFA | ||||
| 1 | M | Han | c.494T > C (Val165Ala) | c.737G > T (p.Gly246Val)# | |
| IVA | IVD | ||||
| 1 | M | Han | c.1208A > G (p.Tyr403Cys) | c.1208A > G (p.Tyr403Cys) | |
| GA- I | GCDH | ||||
| 1 | M | Han | c.532G > A (p.Gly178Arg) | c.655G > A (p.Ala219Thr) | |
| 2 | M | Zhuang | c.532G > A (p.Gly178Arg) | c.1060G > T (p.Gly354Cys)# | |
| MMA | MMUT | ||||
| 1 | F | Han | c.103C > T (p.Gln35Ter) | c.346G > A (p.Val116Met) | |
| PA | PCCB | ||||
| 1 | F | Han | c.132-134delGACinsAT# | – |
The symbol “#” in superscript represents unreported, and “–” represents no mutation or not checked out.