Table 1 Biochemical and genetic characterization of included patient cell lines. Data expressed as mean ± SEM (n = 3). Enzymatic activity of healthy individuals was between 3403 ± 136 and 7406 ± 336 pmol/min/mg. Table modified from9,11. mut0_1 and mut0_2 correspond to mut0_ 2 and mut0_ 3 in Ref.9.

From: Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduria

iKTEC line

Age

Sex

Mutation

Enzymatic activity (pmol/min/mg)

Nucleotide change

Amino acid change

mut0_1

22

w

c.862 T > C (exon 4)

p.S288P; p.S288P

17 ± 10

mut0_2

23

m

c.982C > T (exon 4)

p.L328F; p.L328F

38 ± 25

mut0_3

16

m

c.826 T > C (exon 4); c.1157A > G (exon 6),

p.S288P; p.H386R

24 ± 15

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