Methylmalonic Acid


Sunquest Code:MMALA  
Epic Code:LAB8135Epic Name:Methylmalonic Acid
Synonyms:MMA; Methylmalonate
Methodology:Liquid chromatography/Tandem mass spectrometry
Turnaround Time:Performed once per week; results are reported the next day.


Collection Instructions

Specimen:Blood
Optimal Volume:1.2 mL
Minimum\Peds Volume:0.8 mL
Container:Red or gold (gel) (Green (sodium heparin, no gel), Purple (EDTA), Red (no gel))
Causes for Rejection:Grossly hemolyzed or lipemic specimens.


Processing and Shipping

Specimen Processing:Centrifuge and aliquot within 2 hours of collection 0.5 mL, 0.3 mL minimum.
Shipping Instructions:Ship on dry ice.
Stability:4 days refrigerated; 30 days frozen.
Test Performed at or Referral Lab Biochemical Genetics  (UMMC-East Bank)


Interpretive

Reference Range:

0.00 - 0.40 umol/L  

Use:Diagnose and monitor methylmalonic aciduria caused by Vitamin B12 deficiency, Methylmalonyl CoA mutase enzyme defect, Cob(I)alamine synthesis (cb1A, cb1B, cb1C, cb1D or cb1F) pathway defects, Propionic acidenia, Hemocysteinuria or Pernicious anemia.


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