Skip to main content

Table 1 Biochemical and genetic features of 11 neonatal GA1 patients

From: Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

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)

  1. 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
  2. aThe novel variants identified by our team are in boldface type
  3. 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
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172