Alberta Precision Laboratories

--- Query Results ---

Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Methylmalonic Acid, Urine (Synonyms: MMA, Vitamin B12 Megaloblastic Anemia, Cobalamin Deficiency, Isosuccinic Acid, 2-Methylpropanedioic Acid)

Clinical Indications:

Methylmalonic acid can be elevated in the following enzyme deficiencies / disorders:

methylmalonyl-CoA mutase deficiency
methylmalonyl-CoA epimerase deficiency
cobalamin (Cbl) A, B, C, D, F, J and X deficiencies
intrinsic factor deficiency and Imerslund-Grasbeck syndrome
transcobalamin II deficiency
ACSF3 deficiency (a.k.a., combined malonic and methylmalonic aciduria or CMAMMA)
SUCLA2 and SUCLG1 deficiencies

Other causes of elevated methylmalonic acid:

nutritional vitamin B12 deficiency
renal insufficiency (plasma/serum only)

Urine methylmalonic acid can aid in differentiating between a true functional B12 deficiency and renal insufficiency, both of which can lead to a mild to moderate elevation of plasma methylmalonic acid.

Ordering Alert:

This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.

Urine methylmalonic acid test should not be ordered in conjunction with urine organic acids, as this metabolite is also reported as part of that test, and this test will be reflexively performed on any urine sample with elevated levels detected.

Routine monitoring of adult patients with previously normal methylmalonic acid levels is restricted to a frequency of once yearly.

LABID (Connect Care):

LAB4027A

Test Code:

CALGARY ZONE	BGLNON; IN BGL TEST NAME FIELD ENTER METHYLMALONIC
CENTRAL ZONE NORTH ZONE SOUTH ZONE	MMACUR
EDMONTON ZONE	MMAQ

Specimen Type:

Urine

Primary Container:

Sterile container

Alternate Containers:

Non sterile container

Minimum Collection Volume:

1.0 mL

Specimen Collection Requirements:

First morning void is preferred.
Collect a 5.0 to 10.0 mL random urine specimen.

Test Resources:

Submit request using the applicable requisition or Connect Care online order entry:

Biochemical Genetics Laboratory Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Frozen

Processing:

This test requires creatinine determination for result reporting. For sites using EPIC, a separate aliquot should be removed at the time of initial specimen receipt and sent to the EPIC-designated lab for creatinine testing.

One aliquot with primary container, or two separate aliquots, can be submitted. Write “urine” on all secondary aliquot tubes. Freeze container and/or tubes.

Transportation:

Transport frozen specimens on dry ice.
Samples must not thaw during transport.

Method:

Gas chromatography-mass spectrometry (GC-MS)

Method and Interpretation of Results:

Methylmalonic acid is detected following derivatization (i.e., silylation) using a gas chromatography-mass spectrometry (GC-MS) stable isotope dilution (SID) method with a deuterium-labeled internal standard.

Routine Turn Around Time:

14 days

Testing Schedule:

Weekly

Reference Interval:

Metabolite	Normal Range	Units
Methylmalonic Acid	0.0 - < 5.0	mmol/mol creatinine

Testing Area:

Biochemical Genetics

Performing Site:

Alberta Children’s Hospital

Additional Test Information:

For priority turn-around contact Biochemical Genetics South Laboratory.

Contact Comments:

Biochemical Genetics 403-955-7379

Last Updated On:

Monday, September 19, 2022

Date of Last Review:

Aug 1 2022 12:00AM