Newcastle Laboratories

Methylmalonic acid, urine

Clinical Background:

The measurement of urinary methylmalonic acid is used in the management of patients with methylmalonic aciduria. This condition is caused by impaired conversion of methylmalonyl-CoA to succinyl-CoA...

The measurement of urinary methylmalonic acid is used in the management of patients with methylmalonic aciduria. This condition is caused by impaired conversion of methylmalonyl-CoA to succinyl-CoA and arises from defects of the apoenzyme or of the procustion of the cofactor adenosyl cobalamin. Some of these disorders are clinically responsive to pharmacological doses of B12.

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Test Details

  • Discipline:

    Biochemistry

    Biochemistry

  • Specimen Container Adult:

    Plain universal container

    Plain universal container

  • Specimen Container Paediatric:

    Plain universal container

    Plain universal container

  • Minimum Volume Adult:

    2 mL urine

    2 mL urine

  • Minimum Volume Paediatric:

    2 mL urine

    2 mL urine

  • Interpretation:

    Propionyl carnitine and propionyl-/acetylcarnitine ratio also measured.

    Results interpretated together with the MMA.

    Propionyl carnitine and propionyl-/acetylcarnitine ratio also measured.

    Results interpretated together with the MMA.

  • Reference Ranges:

    MMA: <6.5 mmol/mol creatinine
    Propionylcarnitine: 0.06 - 1.32 mmol/mol creatinine
    Propionyl-/Acetylcarnitine ratio: 0.01 - 0.34

    MMA: <6.5 mmol/mol creatinine
    Propionylcarnitine: 0.06 - 1.32 mmol/mol creatinine
    Propionyl-/Acetylcarnitine ratio: 0.01 - 0.34

  • Routine Contact Name:

    Duty Biochemist

  • Routine Telephone:

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

  • Routine Email:

  • Specialist Test:

    Yes

    Yes

  • Specialist Contact Name:

    Metabolic Clinical Scientist

    Metabolic Clinical Scientist

  • Specialist Telephone:

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

  • Specialist Email:

Availability:

Available during full access hours
Assayed as required
Site of analysis: RVI

Turn Around:

Within 3 weeks

Send To:

Department of Blood Sciences

Level 3
Leazes Wing
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP

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