Response to cobalamin supplementation and dietary changes may be monitored in terms of clinical and laboratory improvement. Quantitative measurement of methyl-malonic acid in the urine can monitor the success of therapy. Candida infection may be the first sign to signal the necessity of treatment adjustments. A neurologist should be consulted when seizures, choreoathetosis, dysarthria and stroke occur. Genetic counseling may be offered to the patient's family, especially if more than 1 child with amino-acidopathy is diagnosed.
Dietary consultation is also in order, since protein restriction is an essential part of treatment.
Physical and occupational therapies are helpful in functionally retraining patients. Deoxyadenosylcobalamin and hydroxocobolamin are the active forms of vitamin B 12 in humans. A number of patients with methyl-malonic acidemia are clinically responsive to cyanocobalamin. It can be started if the diagnosis is suspected while awaiting confirmation. IM Contraindications Avoid use in patients with documented hypersensitivity to cyanocomalamin and hereditary optic nerve atrophy.