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Methylmalonic acid (urine)

Category Biochemistry
Test background
Clinicial Indications

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

Reference range

See report

Sample & container required Random urine
Sample volume 5 mL
Turnaround time Up to 6 weeks
Notes

Check 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.