Methylmalonic acid (urine)
- Evaluating children with signs and symptoms of methylmalonic acidaemia; additional confirmatory testing must be performed
- Evaluating individuals with signs and symptoms associated with a variety of causes of cobalamin deficiency. Several studies have suggested that the determination of serum or urinary methylmalonic acid could be a more reliable marker of cobalamin deficiency than direct cobalamin determination
Sample Required Random urine
Sample Volume 5 mL
Turnaround Time Up to 6 weeks
NotesCheck B12 and homocysteine.
Qualitative results are available as part of the urine organic acid profile. Quantitative assays are not currently performed in house; this is a referred test.