Skip to main content

Table 2 Biochemical and genetic features of two maternal GA1 patients and their infants

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

No.a

Gender

Current age (years)

Newborn screening

Recall

Urine organic acids

Affected gene

Genotype

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

Female

37

1.07

4.00

1.15

5.92

579.6

29.11

GCDH

c.1244-2 A>C

c.1244-2 A>C

2

Male

5

0.07

4.12

0.04

5.84

 N/A

N/A

GCDH

c.1244-2 A>C

 

3

Female

34

0.76

2.46

 N/A

N/A

N/A

N/A

GCDH

c.1063 C>T (p.Arg355Cys)

c.769 C>T (p.Arg257Trp)

4

Male

3

0.06

3.68

0.03

7.16

 N/A

N/A

GCDH

c.769 C>T (p.Arg257Trp)

 
  1. C5DC: glutarylcarnitine; C0: free carnitine, GA: glutaric acid, 3HGA: 3-hydroxyglutaric acid, N/A: not available
  2. 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
  3. aNo. 1 and 3 are maternal GA1 patients, No. 2 and 4 are their infants, respectively
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172