Table 1 Glutathione reductase activity... | American Society of Hematology

Table 1

Glutathione reductase activity in blood cells of some members of family 1 and family 2

	GR activity in RBCs, IU/g hemoglobin	GR activity in leukocytes, IU/10¹¹ cells	Protein(s) encoded in the 2 GSR alleles
Patient 1a	< 0.4	< 5	Truncated and unfolded polypeptide with 405 amino acids
Patient 1b	< 0.4	< 5	Truncated and unfolded polypeptide with 405 amino acids
Father 2	1.1	140	Wild-type GR and the labile GR Gly330Ala mutant
Mother 2	1.6	116	Wild-type GR and the nonsense mutant ending at Leu286
Patient 2	< 0.4 (1.0)*	20	Labile GR Gly330Ala and the mutant ending at Leu286
100 healthy adults, range	2.7-5.8	118-164	Wild-type GR
100 healthy children younger than 3 mo, range	3.1-6.6	Not determined	Wild-type GR

	GR activity in RBCs, IU/g hemoglobin	GR activity in leukocytes, IU/10¹¹ cells	Protein(s) encoded in the 2 GSR alleles
Patient 1a	< 0.4	< 5	Truncated and unfolded polypeptide with 405 amino acids
Patient 1b	< 0.4	< 5	Truncated and unfolded polypeptide with 405 amino acids
Father 2	1.1	140	Wild-type GR and the labile GR Gly330Ala mutant
Mother 2	1.6	116	Wild-type GR and the nonsense mutant ending at Leu286
Patient 2	< 0.4 (1.0)*	20	Labile GR Gly330Ala and the mutant ending at Leu286
100 healthy adults, range	2.7-5.8	118-164	Wild-type GR
100 healthy children younger than 3 mo, range	3.1-6.6	Not determined	Wild-type GR

After riboflavin administration, the GR activity rose to 1.0 IU/g hemoglobin.