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Table 3 GALT enzymatic activity in fibroblasts exposed to arginine

From: Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

GALT activity (μmol/h/g protein)

Cell line

No arginine

0.1 mM arginine

1 mM arginine

Control 1 (n = 3)

31.6 ± 12.9

45.6 ± 25.1

35.3 ± 21.3

Control 2 (n = 2)

52.9

46.1

42.9

CG 1 (n = 2)

n.d.

n.d.

n.d.

CG 2 (n = 2)

n.d.

n.d.

n.d.

CG 3 (n = 2)

n.d.

n.d.

n.d.

  1. Two wildtype (controls 1 and 2) and three classic galactosemic fibroblasts derived from two p.Q188R/p.Q188R patients (cell lines CG1 and CG2) and a p.Q188R/p.Q188P patient (cell line CG3) were cultured in the absence and in the presence of supplemental arginine (0.1 mM and 1 mM arginine). Results are expressed as μmol per hour per gram protein and presented as mean ± SD or average for n = 2. Number of replicates is presented in brackets
  2. n.d.: non-detectable
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172