Table 7.

Metabolic therapy in patients with cobalamin C (cblC) defect (modified from [4], used with permission)

Medication	Recommended dose	Frequency	Efficacy	Target biochemical parameter
Hydroxycobalamin: i.m., i.v. or intranasally [20]	0.3 mg/kg/day	Start once daily	Established	Reducing serum MMA and tHCY levels Normalizing plasma MET and hematological parameters
Betaine oral	250 mg/kg/day	tid	Established	Reducing HCY, increasing MET
Folinic acid oral	5–15 mg/day	tid	Theoretical	Reducing HCY, increasing MET
Levocarnitine oral	50–100 mg/kg/day	tid	Theoretical	Unnecessary in case of normal MET

HCY homocysteine, MET methionine, MMA methylmalonic acid, tid three times a day