Table 1.

Patient Characteristics

Group	Controls	Galactosaemia
Ethnicity	Irish	Irish	Dutch
Patients	n = 16	n = 36	n = 18
Age (years)	20–40	17–51	18–47
Gender	9F, 7 M	15F, 21 M	12F, 6 M
Genotype (nucleotide annotation)	NA	31: (c.563A > G/c.563A > G) 2: c.568A > G/c.580 T > C 1: c.563A > G/c.997C > T 1: c.563A > G/c.379.A > G) 1: c.563A > G/unknown	10: (c.563A > G/c.563A > G) 3: (c.584 T > C/c.687G > T) 1: (c.563A > G/c.584 T > C) 1: (c.563A > G/c.400delT) 1: (c.563A > G/del exon 1_10) 1: (c.956A > C/c.956A > C) 1: Unknown
Genotype (protein variant)	NA	31: p.Q188R/p.Q188R 2: Q188R/p.F194 L 1: p.Q188R/p.R333W 1: p.Q188R/p.K127E, 1: p.Q188R/unknown	10: (p.Q188R/p.Q188R) 3: (p.L195P/p.K229 N) 1: (p.Q188R/p.L195P) 1: (p.Q188R/p.T134 fs) 1: (p.Q188R/del exon 1_10) 1: (c.956A > C/c.956A > C) 1: Unknown