Alberta Precision Laboratories

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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, Blood (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)

Plasma methylmalonic acid can aid in the diagnosis of functional B12 deficiency when the plasma B12 levels are in the low-normal range (150 to 400 pmol/L).

Ordering Alert:

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

Plasma methylmalonic acid test should only be ordered when there is a high index of clinical suspicion of a nutritional B12 deficiency, based on patient presentation.

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

Collection Alert:

Collect following a minimum four-hour fast or just before next feeding for newborns.

LABID (Connect Care):

LAB835

Test Code:

CALGARY ZONE	BGLBL; IN BGL TEST NAME FIELD ENTER METHYLMALONIC
SOUTH ZONE	METHYLM
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Blood

Primary Container:

Green top – Sodium heparin (no gel)

Alternate Containers:

Green top – Lithium heparin (no gel)
Red top – Non-additive (no gel)

Minimum Collection Volume:

0.5 mL plasma or serum

Specimen Collection Requirements:

Collect one Sodium Heparin (or alternate) tube.
Indicate length of fast, or time of last feeding on the requisition (with collection time).

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: plasma or serum aliquot

Processing:

For ALL collection locations except for Alberta Children’s Hospital (ACH):
1. Centrifuge; If red top tube is collected, allow to fully clot prior to centrifugation.
2. Transfer plasma or serum to aliquot tube.
3. Write "NaHep", "LiHep" or "Red Top" on the aliquot tube label.
4. Freeze aliquot tube.

If collected at ACH outpatient Lab:

The primary tube can be put on ice (ensure not to freeze sample) or refrigerated for routine pick-ups between 08:30 to 14:30, Monday through Friday (excluding holidays).
If specimen is collected after 14:30, process sample as described above.

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:

Methylmalonic Acid
Age Range	Normal Range	Units
0 to 18 years	0.04 - 0.20	µmol/L
18 to 60 years	0.05 - 0.27	µmol/L
Over 60 years	0.06 - 0.36	µmol/L

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