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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
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172