Table 2.

R161Q vs. non-R161Q Groups

Variable	R161Q (n=13)	Non-R161Q (n=14)	p value*
Age range at last follow up (years)	0.92–35 (mean 7.8, median 5.2)	1–26.6 (mean 7.6, median 4.3)	0.48
Total plasma homocysteine level on presentation a (micromol/L)	32.2–76.3 (mean 59.1, median 60.3)(n=10)	32.5–280 (mean 172, median 166) (n=10)	0.0006
Methionine level on presentation b (micromol/L)	7–52 (mean 29.9, median 26.1) (n=8)	2.8–31 (mean 14, median 11) (n=9)	0.02
Methylmalonic acid level on presentation c (micromol/L)	8–37 (mean 20.6, median 21.2)(n=10)	0.4–311 (mean 62.4, median 10.2)(n=8)	0.2
Most recent hydroxocobalamin dose (mg/kg/day)	0.01–0.6 (mean=0.1, median=0.06)	0.03–1.5 (mean 0.6, median 0.4)	0.0002
Number of subjects on betaine	2/13 (15%)	11/14 (79%)	0.001
Number of subjects on carnitine	5/13(38%)	11/14 (79%)	0.03
Most recent total plasma homocysteine level a (micromol/L)	5.5–48.4 (mean 16.9, median 11.2)	11.2–109 (mean 40.5, median 30.5)	0.0013
Most recent methionine level b (micromol/L)	11–46.1 (mean 24, median 21.8)	7.8–79.7 (mean 30.5, median 27.5)	0.15
Most recent methylmalonic acid level c (micromol/L)	0.1–44.9 (mean 6.4, median 0.5)	0.3–9.09 (mean 2.3, median 1.2)	0.13
Subjects with abnormal eye exam	2/8 (25%)	7/13 (54%)	0.2
Subjects with developmental delay, learning difficulties, or intellectual disability	5/13(38%)	11/14 (79%)	0.03

^*p value for all variables in this table was set at 0.004 to correct for multiple testing.

^atypical reference range 4–14 micromoles/L with slight variations in some tests,

^btypical reference range 11–50 micromoles/L with slight variations in some tests,

^ctypical reference range 0–0.5 micromoles/L with slight variations in some tests