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.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Plain universal container
Plain universal container
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Specimen Container Paediatric:
Plain universal container
Plain universal container
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Minimum Volume Adult:
2 mL urine
2 mL urine
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Minimum Volume Paediatric:
2 mL urine
2 mL urine
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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.
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Reference Ranges:
MMA: <6.5 mmol/mol creatinine
Propionylcarnitine: 0.06 - 1.32 mmol/mol creatinine
Propionyl-/Acetylcarnitine ratio: 0.01 - 0.34MMA: <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
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: