Assessment of cellular cobalamin metabolism in Gaucher disease

BMC Medical Genetics

Table 4 Extracellular levels of tHcy, Cys, Met and MMA in Gaucher disease and healthy human fibroblasts in the absence and in the presence of HOCbl

Variable	Healthy human fibroblasts		GD fibroblasts		**p-value
Variable	Without HOCbl (n = 3)	With HOCbl (n = 3)	Without HOCbl (n = 3)*	With HOCbl (n = 3)*	Group	Cobalamin supplementation	Interaction
tHcy (nmol/mg) range	3.74[3.01–4.45] 3.44–4.02	2.15[0.22–3.44] 1.08–2.25	3.73[1.87–5.27] 2.82–4.16	1.93[− 0.88–5.92] 1.54–4.08	0.699	0.041	0.187
Cys (nmol/mg) range	142.88[5.70–280.12] 87.69–198.16	159.23[26.33–271.79] 95.36–192.59	284.72[−115.81–648.73] 104.26–410.40	266.75[−192.00–807.51] 130.24–526.28	0.132	1.000	0.459
Met (nmol/mg) range	116.05[31.86–212.08] 89.02–160.84	126.66[36.86–214.55] 89.47–160.98	156.44[−53.85–368.93] 73.00–243.18	148.51[−74.35–424.63] 90.70–286.20	0.589	0.699	0.887
MMA (nmol/mg) range	0.14[0.01–0.26] 0.08–0.18	0.01[−0.09–0.46] 0.06–0.27	0.23[0.01–0.37] 0.10–0.23	0.23[−0.01–0.49] 0.14–0.34	0.310	0.394	0.536

Data expressed as Median [95% Confidence Interval]. Legend: without HOCbl culture medium without hydroxocobalamin; with HOCbl culture medium with hydroxocobalamin; GD Gaucher Disease. p – statistical significance. **Mann-Whitney test (factors: group – healthy human and GD patients, cobalamin supplementation) or Kruskal-Wallis test with Dunn post hoc (factors: group – healthy human control and GD; cobalamin supplementation; interaction) for independent samples. Significance set at 5% for all analysis. *GD types I (n = 1); II (n = 1) and III (n = 1). Statistically significant findings are highlighted in bold font

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