Methylmalonic Acid, Urine, Quantitative


Sunquest Code:MMA  
Epic Code:LAB3614Epic Name:Methylmalonic Acid Quantitative Urine
Synonyms:MMA
Methodology:Gas chromatography/mass spectrometry
CPT Code:83921
Turnaround Time:Analysis performed once/week; results reported the next day.
Special Instructions:Indicate if patient is taking an antihistamine on the request form.
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Urine Collection Procedure



Collection Instructions

Specimen:Urine, random or timed collection
Optimal Volume:Submit entire collection; analysis requires 2.0 mL
Container:3 L plastic jug (Plastic leakproof container, sterile)
Collection Instructions:Refrigerate sample during collection.
Patient Preparation:Patients should not consume histamine-rich foods (e.g., cheese, chicken liver, eggplant, sauerkraut, sirloin steak, spinach, tomatoes, wine, or yogurt) for 24 hours prior to start of or during urine collection.


Processing and Shipping

Specimen Processing:Mix collection before aliquot is taken. Aliquot 5 mL, 2 mL minimum. Store in refrigerator.
Shipping Instructions:Ship at refrigerated temperature.
Test Performed at or Referral Lab Biochemical Genetics  (UMMC-East Bank)


Interpretive

Reference Range:0.0-3.6 mmol/mol creatinine
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 acidemia, Homocysteinuria or Pernicious anemia.

 



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