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. Author manuscript; available in PMC: 2018 Jul 1.
Published in final edited form as: Mol Genet Metab. 2017 May 19;121(3):199–205. doi: 10.1016/j.ymgme.2017.05.011

Table 1.

Metabolic Sequela in of human and mouse models of CBS deficiency

Species Genotype/Model/Strain Age Met tHcy Cysteine Cystathionine Ref.
Human Controls Adults 22.4 μM 7.4 μM 289 μM 157 nM [5]2
Human CBS−/− Unknown 160 μM 124.8 μM 136 μM 40 nM [5]2
Mouse Controls 8–12 weeks 66.9 μM 5.4 μM 268 μM 956 nM1 [24]3
Mouse Tg-hCBS Cbs−/− (not induced) 8–12 weeks 62.6 μM 165 μM 198 μM 4036 nM1 [24]3
Mouse Tg-I278T Cbs−/− 8–12 weeks 115 μM 295 μM 167 μM 310 nM1 [24]3
Mouse HO Cbs−/− Unknown 60 μM 290 μM 45 μM 8100 nM [27]3
Mouse Cbs−/− (C57BL6) 2 weeks 2445 μM 353 μM nd nd [29]3
Mouse CBS−/− (C57BL6) 3 weeks 130 212 117 bd [19]3
1

Cystathionine values were determined by Stabler and Kruger, unpublished. Average values given.

2

Median values reported in these papers.

3

Average values reported in these papers.