Home
HelpTest Code MMPP Mitochondrial Metabolites, Plasma
Ordering Guidance
This test is not the recommended initial screening test for evaluating patients with suspected mitochondrial disorders, organic acidurias, and ketone body disorders. For these purposes, the preferred tests for first-tier assessment are OAU / Organic Acids Screen, Random, Urine; AAQP / Amino Acids, Quantitative, Plasma; and ACRN / Acylcarnitines, Quantitative, Plasma.
Analytes from LAPYP / Lactate Pyruvate Panel, Plasma are included in this test. If ordered together, LAPYP may be canceled.
Specimen Required
Collection Container/Tube:
Preferred: Green top (Sodium heparin)
Acceptable: Green top (Lithium heparin)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions: Centrifuge and aliquot plasma into a plastic vial.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Reporting Name
Mitochondrial Metabolites, PSpecimen Type
PlasmaSpecimen Minimum Volume
0.1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma | Frozen | 7 days |
Reference Values
LACTIC ACID
≤ 4000.0 nmol/mL
2-HYDROXYBUTYRIC ACID
≤ 124.0 nmol/mL
3-HYDROXYBUTYRIC ACID
≤ 700.0 nmol/mL
PYRUVIC ACID
≤ 350.0 nmol/mL
cis-ACONITIC ACID
≤ 9.0 nmol/mL
CITRIC ACID
≤ 250.0 nmol/mL
3-HYDROXYPROPIONIC ACID
≤ 12.4 nmol/mL
3-HYDROXY-2-METHYLBUTYRIC ACID
≤ 2.5 nmol/mL
3-HYDROXYISOVALERIC ACID
≤ 15.4 nmol/mL
SUCCINIC ACID
≤ 10.0 nmol/mL
FUMARIC ACID
≤ 5.0 nmol/mL
3-METHYLGLUTACONIC ACID
≤ 1.6 nmol/mL
MALIC ACID
≤ 20.0 nmol/mL
2-KETOBUTYRIC ACID
≤ 16.0 nmol/mL
2-KETOISOVALERIC ACID
≤ 35.0 nmol/mL
ACETOACETIC ACID
≤ 350.0 nmol/mL
3-METHYL-2-KETOVALERIC ACID
≤ 70.0 nmol/mL
2-KETOISOCAPROIC ACID
≤ 70.0 nmol/mL
2-METHYLCITRIC ACID
≤ 1.0 nmol/mL
2-KETOGLUTARIC ACID
≤ 40.0 nmol/mL
Interpretation
An interpretive report based on pattern recognition is provided. The individual quantitative results support the interpretation of the mitochondrial metabolite profile but are not diagnostic by themselves.
The elevation of 3-hydroxyisovaleric acid can be explained by several differential diagnoses that cannot always be distinguished by the mitochondrial metabolite profile. Differential diagnoses will be noted in the interpretative comment.
For patients without a prior known diagnosis, abnormal results are typically not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on a mitochondrial metabolite profile, independent biochemical or molecular genetic analyses are required.
Clinical Reference
1. Munnich A, Rotig A, Cormier-Daire V, Rustin P. Clinical presentation of respiratory chain deficiency. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed July 5, 2024. Available at http://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225086827
2. Robinson BH. Lactic acidemia: Disorders of pyruvate carboxylase and pyruvate dehydrogenase. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed July 5, 2024. Available at http://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225087140
3. Shoffner JM. Oxidative phosphorylation diseases. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019 Accessed July 5, 2024. Available at http://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225088339
4. Mitchell GA, Fukao T. Inborn errors of ketone body metabolism. In: Valle D, Antonarakis S, Ballabio A, Beaudet A, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease McGraw-Hill Education; 2019. Accessed July 5, 2024. Available at http://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225087757
Day(s) Performed
Wednesday
Report Available
3 to 9 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MMPP | Mitochondrial Metabolites, P | 101455-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 616819 | Interpretation | 59462-2 |
| 616798 | Lactic acid | 2524-7 |
| 616799 | 2-Hydroxybutyric acid | 69843-1 |
| 616800 | 3-Hydroxybutyric acid | 6873-4 |
| 616801 | Pyruvic acid | 32338-6 |
| 616802 | cis-Aconitic acid | 75083-6 |
| 616803 | Citric acid | 15038-3 |
| 616804 | 3-Hydroxypropionic acid | 47536-8 |
| 616805 | 3-Hydroxy-2-methylbutyric acid | 69789-6 |
| 616806 | 3-Hydroxyisovaleric acid | 72450-0 |
| 616807 | Succinic acid | 35871-3 |
| 616808 | Fumaric acid | 75081-0 |
| 616809 | 3-Methylglutaconic acid | 33273-4 |
| 616810 | Malic acid | 75068-7 |
| 616811 | 2-Ketobutyric acid | In Process |
| 616812 | 2-Ketoisovaleric acid | 35868-9 |
| 616813 | Acetoacetic acid | 35867-1 |
| 616814 | 3-Methyl-2-ketovaleric acid | 35869-7 |
| 616815 | 2-Ketoisocaproic acid | 35870-5 |
| 616816 | 2-Methylcitric acid | 26904-3 |
| 616817 | 2-Ketoglutaric acid | 69803-5 |
| 616818 | Reviewed by | 18771-6 |