Table 1.

Key laboratory parameters in cobalamin C (cblC) defect

Test	Normal range	Patients
Plasma tHCY (μm)	5–15	23–186
Plasma MMA (μm)	<0.27	1.6–14.5
Plasma B12 levels (pg/ml)	170–800	611–932

tHCY total homocysteine, MMA methylmalonic acid