Table 2 Acylcarnitine, genetic profiles and clinical features of 69 patients with oads.
Case | Gender | NBS | RC | Disorders | Affected gene | Genotype | Age at presentation | Clinical phenotype | |
|---|---|---|---|---|---|---|---|---|---|
1 | Female | C5 = 0.81, C5/C3 = 0.58 | C5 = 0.79, C5/C3 = 1.93 | MBAD | ACADSB | c.1165 A > G (p.M389V) | c.1165 A > G (p.M389V) | None | N |
2 | Male | C5 = 0.59, C5/C3 = 0.45 | C5 = 1.39, C5/C3 = 1.23 | MBAD | ACADSB | c.1165 A > G (p.M389V) | c.1165 A > G (p.M389V) | None | N |
3 | Male | C5 = 0.56, C5/C3 = 0.24 | C5 = 0.87, C5/C3 = 0.97 | MBAD | ACADSB | c.1165 A > G (p.M389V) | c.1165 A > G (p.M389V) | None | N |
4 | Female | C5 = 0.51, C5/C3 = 0.75 | C5 = 0.57, C5/C3 = 0.55 | MBAD | ACADSB | c.275 C > G (p.S92*) | c.923G > A (p.C308Y) | None | N |
5 | Male | C5 = 1.16, C5/C3 = 0.75 | C5 = 1.11, C5/C3 = 0.99 | MBAD | ACADSB | c.1165 A > G (p.M389V) | c.1165 A > G (p.M389V) | None | N |
6 | Male | C5 = 0.21, C0 = 7.3 | C5 = 0.59, C5/C3 = 0.52 | MBAD | ACADSB | c.1165 A > G (p.M389V) | c.1165 A > G (p.M389V) | None | N |
7 | Male | C5 = 0.36, C5/C3 = 0.17 | C5 = 0.51, C5/C3 = 0.76 | MBAD | ACADSB | c.1165 A > G (p.M389V) | c.1165 A > G (p.M389V) | None | N |
8 | Male | C5 = 0.37, C5/C3 = 0.21 | C5 = 0.39, C5/C3 = 0.42 | MBAD | ACADSB | c.1165 A > G (p.M389V) | c.1165 A > G (p.M389V) | None | N |
9 | Female | C5 = 0.41, C5/C3 = 0.35 | C5 = 0.35, C5/C3 = 0.92 | MBAD | ACADSB | c.275 C > G (p.S92*) | c.275 C > G (p.S92*) | None | N |
10 | Male | C5 = 0.44, C5/C3 = 0.28 | C5 = 0.64, C5/C3 = 1.08 | MBAD | ACADSB | c.275 C > G (p.S92*) | c.275 C > G (p.S92*) | None | N |
11 | Male | C5 = 0.38, C5/C3 = 0.18 | C5 = 0.43, C5/C3 = 0.3 | MBAD | ACADSB | c.655G > A (p.V219M) | c.596 A > G (p.Y199C) | None | N |
12 | Female | C5 = 0.64, C5/C3 = 0.26 | C5 = 0.6, C5/C3 = 1.36 | MBAD | ACADSB | c.655G > A (p.V219M) | c.886G > T (p.G296*) | None | N |
13 | Female | C5 = 0.38, C5/C3 = 0.39 | C5 = 0.53, C5/C3 = 0.48 | MBAD | ACADSB | c.746delC (p.P249Lfs*15) | c.746delC (p.P249Lfs*15) | None | N |
14 | Female | C5 = 0.69, C5/C3 = 0.26 | C5 = 1.66, C5/C3 = 0.97 | MBAD | ACADSB | c.1165 A > G (p.M389V) | c.1165 A > G (p.M389V) | None | N |
15 | Male | C5 = 0.37, C5/C3 = 0.23 | C5 = 0.88, C5/C3 = 0.54 | MBAD | ACADSB | c.275 C > G (p.S92*) | c.653T > C (p.L218P) | None | N |
16 | Female | C5 = 0.51, C5/C3 = 0.28 | C5 = 0.79, C5/C3 = 0.87 | MBAD | ACADSB | c.923G > A (p.C308Y) | c.923G > A (p.C308Y) | None | N |
17 | Female | C5 = 0.67, C5/C3 = 0.16 | C5 = 0.74, C5/C3 = 0.47 | MBAD | ACADSB | c.655G > A (p.V219M) | c.923G > A (p.C308Y) | None | N |
18 | Female | C5 = 0.38, C5/C3 = 0.38 | C5 = 0.56, C5/C3 = 1.04 | MBAD | ACADSB | c.1165 A > G (p.M389V) | c.1165 A > G (p.M389V) | None | N |
1 | Female | C5OH = 6.97, C5OH/C8 = 232.33 | C5OH = 8.71, C5OH/C8 = 871, C0 = 3.37 | 3-MCCD | MCCC1 | c.863 A > G(p.E288G) | c.313 C > T(p.Q105*) | None | N |
2 | Male | C5OH = 2.13, C5OH/C8 = 53.25 | C5OH = 2.04, C5OH/C8 = 68 | 3-MCCD | MCCC1 | c.639 + 2T > A | c.196 C > T (p.R66C) | None | N |
3 | Male | C5OH = 1.66, C5OH/C8 = 33.2 | C5OH = 1.24, C5OH/C8 = 24.8 | 3-MCCD | MCCC1 | c.1331G > A (p.R444H) | c.1450G > A (p.P484Met) | None | N |
4 | Female | C5OH = 1.36, C5OH/C8 = 17 | C5OH = 0.9, C5OH/C8 = 11.25 | 3-MCCD | MCCC1 | c.1894 C > T (p.P632S) | c.657_658insAT (p.S220Ifs*10) | None | N |
5 | Female | C5OH = 1.76, C5OH/C8 = 44 | C5OH = 2.07, C5OH/C8 = 69 | 3-MCCD | MCCC1 | c.1331G > A (p.R444H) | c.639 + 5G > T | None | N |
6 | Male | C5OH = 2.46, C5OH/C8 = 61.5 | C5OH = 4.15, C5OH/C8 = 138.33 | 3-MCCD | MCCC1 | c.1331G > A (p.R444H) | c.617 C > T (p.A206V) | None | N |
7 | Male | C5OH = 2.4, C5OH/C8 = 60 | C5OH = 4.16, C5OH/C8 = 208 | 3-MCCD | MCCC1 | c.1331G > A (p.R444H) | c.617 C > T (p.A206V) | None | N |
8 | Female | C5OH = 1.67, C5OH/C8 = 55.67 | C5OH = 1.51, C5OH/C8 = 37.75 | 3-MCCD | MCCC1 | c.639 + 5G > T | c.227_228delTG (p.V76Gfs*4) | None | N |
9 | Male | C5OH = 6.85, C5OH/C8 = 342.5 | C5OH = 1.71, C5OH/C8 = 1050, C0 = 3.26 | 3-MCCD | MCCC1 | c.1331G > A (p.R444H) | c.1630delA (p.S454Afs*69) | 7 m | Hyperammonemia, lactacemia |
10 | Female | C5OH = 12.54, C5OH/C8 = 418 | C5OH = 12.18, C5OH/C8 = 1218, C0 = 3.84 | 3-MCCD | MCCC2 | c.351_353delTGG (p.G118del) | c.351_353delTGGG (p.G118del) | None | N |
11 | Female | C5OH = 10.54, C5OH/C8 = 527 | C5OH = 21.17, C5OH/C8 = 2117, C0 = 3.51 | 3-MCCD | MCCC2 | c.351_353delTGG (p.G118del) | c.1367 C > T (p.A456P) | 2 y | Globaldevelopmental delay |
12 | Female | C5OH = 6.1, C5OH/C8 = 305 | C5OH = 11.96, C5OH/C8 = 598, C0 = 3.1 | 3-MCCD | MCCC2 | c.351_353delTGG (p.G118del) | c.592 C > T (p.Q198*) | None | N |
13 | Male | C5OH = 8.19, C5OH/C8 = 409.5, C0 = 5.65 | C5OH = 11.69, C5OH/C8 = 1169, C0 = 2.57 | 3-MCCD | MCCC2 | c.351_353delTGG (p.G118del) | c.1103delG (p.G368Vfs*70) | None | N |
14 | Male | C5OH = 8.53, C5OH/C8 = 426.5, C0 = 7.7 | C5OH = 13.27 C5OH/C8 = 1327, C0 = 1.8 | 3-MCCD | MCCC2 | c.351_353delTGG (p.G118del) | c.438delC (p.P147Qfs*2) | None | N |
15 | Female | C5OH = 1.64, C5OH/C8 = 23.43 | C5OH = 3.78, C5OH/C8 = 94.5 | 3-MCCD | MCCC2 | c.351_353delTGG (p.G118del) | c.709G > A ( p.G237S) | None | N |
16 | Male | C5OH = 1.33, C5OH/C8 = 22.17 | C5OH = 1.21, C5OH/C8 = 30.25 | 3-MCCD | MCCC2 | c.351_353delTGG (p.G118del) | c.914 A > G (p.E305G) | None | N |
17 | Male | C5OH = 8.1, C5OH/C8 = 135 | C5OH = 10.4, C5OH/C8 = 520, C0 = 5.07 | 3-MCCD | MCCC2 | c.1103delG (p.G368Vfs*70) | c.1103delG (p.G368Vfs*70) | None | N |
18 | Male | C5OH = 5.32, C5OH/C8 = 106.4 | C5OH = 14.16, C5OH/C8 = 472, C0 = 6.92 | 3-MCCD | MCCC2 | c.351_353delTGG (p.G118del) | c.592 C > T (p.Q198*) | None | N |
1 | Male | C5DC = 2.15, C5DC/C8 = 71.67 | C5DC = 2.24, C5DC/C8 = 224, C0 = 6.32 | GA-1 | GCDH | c.1244–2 A > C | c.636-4_639del | 1 m | Macrocephaly, growth retardation |
2 | Female | C5DC = 1.12, C5DC/C8 = 28, C0 = 3.8 | C5DC = 1.12, C5DC/C8 = 27.36 | GA-1 | GCDH | c.1244–2 A > C | c.1244–2 A > C | 1 m | Macrocephaly, dystonia |
3 | Female | CD5C = 0.68, C5DC/C8 = 17 | CD5C = 0.09, C5DC/C8 = 2.25 | GA-1 | GCDH | c.300G > A (p.M100I) | c.1204 C > T (p.R402W) | None | N |
4 | Female | CD5C = 2.44, C5DC/C8 = 81.33 | CD5C = 3.65, C5DC/C8 = 121.67 | GA-1 | GCDH | c.1244–2 A > C | c.1261G > A (p.A421T) | 2 m | Encephalopathy, seizures |
5 | Male | CD5C = 4.26, C5DC/C8 = 142 | CD5C = 3.34, C5DC/C8 = 167, C0 = 4.99 | GA-1 | GCDH | c.1244–2 A > C | c.1244–2 A > C | 7 m | Developmental regression |
6 | Male | CD5C = 1.58, C5DC/C8 = 52.67 | CD5C = 2.19, C5DC/C8 = 54.75 | GA-1 | GCDH | c.1244–2 A > C | c.1244–2 A > C | 3 m | Neurological regression |
7 | Female | CD5C = 0.06, C0 = 3.18 | CD5C = 0.05, C0 = 7.69 | GA-1 | GCDH | c.1244–2 A > C | c.1261G > A (p.A421T) | N/A | N/A |
8 | Female | CD5C = 3.79, C5DC/C8 = 126.33 | N/A | GA-1 | GCDH | c.1244–2 A > C | c.1016T > C (p.M339T) | 6 m | Macrocephaly, seizures |
9 | Female | CD5C = 1.9, C5DC/C8 = 63.33 | CD5C = 1.92,, C5DC/C8 = 96, C0 = 3.29 | GA-1 | GCDH | c.395G > A (p.R132Q) | c.1147 C > T (p.R383C) | 5 m | Macrocephaly, growth retardation |
10 | Male | CD5C = 2.42, C5DC/C8 = 80.67 | CD5C = 2.42, C5DC/C8 = 121 | GA-1 | GCDH | c.1244–2 A > C | c.1244–2 A > C | 1y 5 m | Macrocephaly, movement disorder, speech delay |
11 | Female | CD5C = 2.81, C5DC/C8 = 70.25 | CD5C = 3.68, C5DC/C8 = 122.67 | GA-1 | GCDH | c.1244–2 A > C | c.1244–2 A > C | 5 m | Macrocephaly, growth retardation |
12 | Female | CD5C = 1.45, C5DC/C8 = 29 | CD5C = 1.5, C5DC/C8 = 19.07 | GA-1 | GCDH | c.533G > A (p.G178E) | c.1244–2 A > C | 7 m | Macrocephaly, movement disorder, seizures, coma |
13 | Female | CD5C = 2.67, C5DC/C8 = 19.07 | CD5C = 2.47, C5DC/C8 = 49.4 | GA-1 | GCDH | c.532G > A (p.G178R) | c.108_109delAC (p.Q37fs*5) | 8 m | Macrocephaly, growth retardation |
1 | Male | C4 = 0.71, C4/C3 = 0.42 | C4 = 0.79, C4/C3 = 0.99 | IBDD | ACAD8 | c.286G > A (p.G96S) | c.444G > T (p.P148P) | None | N |
2 | Male | C4 = 0.58, C4/C3 = 0.52 | C4 = 0.54, C4/C3 = 0.77 | IBDD | ACAD8 | c.286G > A (p.G96S) | c.444G > T (p.P148P) | None | N |
3 | Female | C4 = 0.9, C4/C3 = 0.56 | C4 = 0.73, C4/C3 = 0.61 | IBDD | ACAD8 | c.512 C > G (p.S171C) | c.784G > A (p.E262K) | None | N |
4 | Male | C4 = 1.01, C4/C3 = 0.79 | C4 = 0.98, C4/C3 = 1.61 | IBDD | ACAD8 | c.444G > T (p.P148P) | c.1176G > T (p.R392S) | None | N |
5 | Female | C4 = 0.83, C4/C3 = 0.62 | C4 = 1.38, C4/C3 = 1.79 | IBDD | ACAD8 | c.286G > A (p.G96S) | c.1092 + 1G > A | None | N |
6 | Male | C4 = 0.98, C4/C3 = 0.53 | C4 = 0.77, C4/C3 = 0.86 | IBDD | ACAD8 | c.286G > A (p.G96S) | c.444G > T (p.P148P) | None | N |
7 | Female | C4 = 1.29, C4/C3 = 1.63 | C4 = 1.96, C4/C3 = 2.09 | IBDD | ACAD8 | c.286G > A (p.G96S) | c.286G > A (p.G96S) | None | N |
8 | Male | C4 = 1.94, C4/C3 = 0.82 | C4 = 1.69, C4/C3 = 2.38 | IBDD | ACAD8 | c.286G > A (p.G96S) | c.286G > A (p.G96S) | None | N |
9 | Female | C4 = 1.47, C4/C3 = 1.03 | C4 = 1.31, C4/C3 = 1.96 | IBDD | ACAD8 | c.235 C > G (p.R79G) | c.1000 C > T (p.R334C) | None | N |
1 | Male | C5 = 0.55, C5/C3 = 0.47 | C5 = 0.45, C5/C3 = 1.13 | IVA | IVD | c.499 A > G p.M167V | c.1208 A > G (p.Y403C) | None | N |
2 | Male | C5 = 1.37, C5/C3 = 0.85 | C5 = 1.05, C5/C3 = 1.19 | IVA | IVD | c.640 A > G (p.T214A) | c.1208 A > G (p.Y403C) | None | N |
3 | Female | C5 = 0.4, C5/C3 = 0.17 | C5 = 0.52, C5/C3 = 0.88 | IVA | IVD | c.740G > A (p.G247E) | c.1208 A > G (p.Y403C) | None | N |
4 | Female | C5 = 0.44, C5/C3 = 0.23 | C5 = 0.94, C5/C3 = 1.02 | IVA | IVD | c.214G > A (p.D72N) | c.832G > C (p.V278L) | None | N |
5 | Male | C5 = 7.17, C5/C3 = 26.56 | N/A | IVA | IVD | c.G158A (p.R53H) | c.G1195C (p.D399H) | 3 d | Vomiting, lethargy, metabolic acidosis, severe infection, died at 13 days |
1 | Male | C3 = 9.04,C3/C2 = 0.85 | C3 = 14.93,C3/C2 = 1.06 | MMA | MMUT | c.1777G > T(p.E593*) | c.1159 A > C(p.T387P) | 1 d | Metabolic crises, nervous impairment, haematological abnormality, died at 5 days |
2 | Female | C3 = 11.95,C3/C2 = 0.61 | N/A | MMA | MMUT | c.729_730insTT(p.D244Lfs*39) | c.323G > A(p.R108H) | 5 d | Metabolic crises, nervous impairment, haematological abnormality |
3 | Female | C3 = 11.61,C3/C2 = 0.74 | C3 = 11.37,C3/C2 = 0.73 | MMA | MMUT | c.1677-1G > A | c.1677-1G > A | 2 d | Metabolic crises, developmental delay, haematological, abnormality, died at 8 days |
4 | Female | C3 = 7.05,C3/C2 = 0.71 | C3 = 8.14,C3/C2 = 1.3 | MMA | MMAA | c.365T > C(p.L122P) | c.365T > C(p.L122P) | None | N |
5 | Female | C3 = 7.33,C3/C2 = 0.5 | C3 = 6.39,C3/C2 = 1.04 | PA | PCCB | c.1087T > C(p.S363P) | c.1301 C > T(p.A434V) | 2 d | poor feeding, hyperammonemia, and metabolic acidosis, died at one month |
6 | Male | C3 = 11.74,C3/C2 = 0.77 | C3 = 79.48,C3/C2 = 11.59 | PA | PCCB | exon 1 del | exon 1 del | 2 d | poor reaction, seizures, lethargy, died at two months |
