|
Patient no.
|
Gender
|
Age at diagnosis (days)
|
Newborn screening
|
Recall
|
Urine organic acids
|
Genotypea
|
|---|
|
C5DC (µmol/L)
|
C0 (µmol/L)
|
C5DC (µmol/L)
|
C0 (µmol/L)
|
GA (mmol/mol creatinine)
|
3HGA (mmol/mol creatinine)
|
Allele 1
|
Allele 2
|
|---|
|
1
|
F
|
22
|
2.67
|
13.50
|
2.47
|
15.06
|
150.49
|
9.88
|
c.532G>A (p.Gly178Arg)
|
c.108_109delAC (p.Gln37Glufs*5)
|
|
2
|
F
|
20
|
1.45
|
18.32
|
1.50
|
41.12
|
503.79
|
23.36
|
c.533G>A (p.Gly178Glu)
|
c.1244-2 A>Cb
|
|
3
|
F
|
18
|
2.81
|
13.95
|
3.68
|
10.87
|
300.15
|
30.98
|
c.1244-2 A>C
|
c.1244-2 A > C
|
|
4
|
M
|
25
|
2.42
|
13.06
|
N/A
|
N/A
|
409.05
|
36.34
|
c.1244-2 A>C
|
c.1244-2 A>C
|
|
5
|
F
|
20
|
1.90
|
14.25
|
1.92
|
10.20
|
462.83
|
12.91
|
c.395G>A (p.Arg132Gln)
|
c.1147 C>T (p.Arg383Cys)
|
|
6
|
F
|
21
|
3.79
|
13.33
|
N/A
|
N/A
|
N/A
|
N/A
|
c.1244-2 A>C
|
c.1016T>C (p.Met339Thr)
|
|
7
|
F
|
44
|
0.06
|
3.18
|
0.05
|
7.69
|
1.31
|
2.50
|
c.1244-2 A>C
|
c.1261G>A (p.Ala421Thr)
|
|
8
|
M
|
23
|
1.58
|
16.37
|
2.19
|
29.91
|
313.74
|
24.96
|
c.1244-2 A>C
|
c.1244-2 A>C
|
|
9
|
M
|
28
|
4.26
|
9.66
|
3.34
|
4.99
|
741.81
|
65.23
|
c.1244-2 A>C
|
c.1244-2 A>C
|
|
10
|
F
|
26
|
2.44
|
10.91
|
3.65
|
9.04
|
434.34
|
38.46
|
c.1244-2 A>C
|
c.1261G>A (p.Ala421Thr)
|
|
11
|
F
|
30
|
0.68
|
19.51
|
0.70
|
20.62
|
N/A
|
N/A
|
c.300G>A (p.Met100Ile)
|
c.1204 C>T (p.Arg402Trp)
|
- M: male, F: female, C5DC: glutarylcarnitine; C0: free carnitine, GA: glutaric acid, 3HGA: 3-hydroxyglutaric acid, N/A: not available. Reference range, C5DC: 0.03–0.3 µmol/L, C0: 8.5–50 µmol/L, GA: < 2.5 mmol/mol creatinine, 3HGA: <4.6 mmol/mol creatinine
- aThe novel variants identified by our team are in boldface type
- bThe c.1244-2 A>C splice site variant destroys the canonical splice acceptor site in intron 11 of the GCDH gene, and is expected to cause aberrant splicing
