Test Catalog

Test Id : MMPP

Mitochondrial Metabolites, Plasma

Useful For
Suggests clinical disorders or settings where the test may be helpful

Monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders

Method Name
A short description of the method used to perform the test

Gas Chromatography-Mass Spectrometry (GC-MS)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Mitochondrial Metabolites, P

Aliases
Lists additional common names for a test, as an aid in searching

2-Ketoisocaproate

2-Ketoisovalerate

2-Ketobutyrate

2-Ketoglutarate

2-Methylcitrate

2-Hydroxybutyrate

3-Hydroxybutyrate

3-Hydroxyisovalerate

3-Hydroxypropionate

3-Hydroxy-3-Methylbutyrate

3-Methyl-2-Ketovalerate

3-Methylglutaconate

Acetoacetate

c-Aconitate

Citrate

Fumarate

Lactate

Malate

Pyruvate

Succinate

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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 plastic vial.

Forms

If not ordering electronically, complete, print, and send a Biochemical Genetics Patient Information (T602) with the specimen.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

0.1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject
Gross lipemia OK
Gross icterus OK

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Plasma Frozen (preferred) 7 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Mitochondrial metabolites occur as physiologic intermediates in a variety of metabolic pathways. Mitochondrial diseases, organic acidurias, and ketone disorders are groups of disorders in which one or more of these pathways are blocked, resulting in a deficiency of normal products and an abnormal accumulation of intermediate metabolites in the body. In some conditions, these excess metabolites are observed in abnormal plasma concentrations.

 

Mitochondrial disorders vary widely in both clinical presentation and age of onset. Patients commonly present with neurologic and myopathic features. In addition, patients may experience involvement of multiple organ systems with features such as myopathy, ophthalmoplegia, ptosis, cardiomyopathy, sensorineural hearing loss, optic atrophy, pigmentary retinopathy, diabetes mellitus, encephalomyopathy, seizures, and stroke-like episodes.

 

Organic acidurias typically present with either an acute life-threatening illness in early infancy or unexplained developmental delay with intercurrent episodes of metabolic decompensations in later childhood. Organic acidurias should be considered when patients present with severe and persistent metabolic acidosis of unexplained origin, elevated anion gap, and severe neurologic manifestations, such as seizures. Other findings, especially during acute episodes of metabolic decompensations, may include elevated ketones in urine or plasma, hyperammonemia, hypoglycemia, and lactic acidemia.

 

Ketone disorders include disorders of impaired ketone body metabolism and disorders of ketogenesis. Ketones are converted as an energy source when either carbohydrate reserves are depleted or excessive fatty acids are present. Clinical symptoms of ketone body metabolism disorders include episodes of ketoacidosis, vomiting, dehydration, and lethargy with increased risk of symptoms during periods of illness or fasting. Patients with disorders of ketogenesis experience hypoketotic hypoglycemic episodes that may result in long-term sequelae including seizure disorders, intellectual disability, and white matter changes in the brain. Treatment for ketone disorders involves avoidance of fasting and management of acute symptoms.

 

A diagnostic workup for mitochondrial disorders, organic acidurias, and ketone body disorders includes analysis of urine organic acids (OAU / Organic Acids Screen, Random, Urine), plasma amino acids (AAQP / Amino Acids, Quantitative, Plasma) and plasma acylcarnitines (ACRN / Acylcarnitines, Quantitative, Plasma) as recommended first-tier tests for assessment. While the mitochondrial metabolites panel complements this work up and provides additional context, this test should not be used in isolation for diagnostic purposes.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

LACTIC ACID

< or = 4000.0 nmol/mL

 

2-HYDROXYBUTYRIC ACID

< or = 124.0 nmol/mL

 

3-HYDROXYBUTYRIC ACID

< or = 700.0 nmol/mL

 

PYRUVIC ACID

< or = 350.0 nmol/mL

 

cis-ACONITIC ACID

< or = 9.0 nmol/mL

 

CITRIC ACID

< or = 250.0 nmol/mL

 

3-HYDROXYPROPIONIC ACID

< or = 12.4 nmol/mL

 

3-HYDROXY-2-METHYLBUTYRIC ACID

< or = 2.5 nmol/mL

 

3-HYDROXYISOVALERIC ACID

< or = 15.4 nmol/mL

 

SUCCINIC ACID

< or = 10.0 nmol/mL

 

FUMARIC ACID

< or = 5.0 nmol/mL

 

3-METHYLGLUTACONIC ACID

< or = 1.6 nmol/mL

 

MALIC ACID

< or = 20.0 nmol/mL

 

2-KETOBUTYRIC ACID

< or = 16.0 nmol/mL

 

2-KETOISOVALERIC ACID

< or = 35.0 nmol/mL

 

ACETOACETIC ACID

< or = 350.0 nmol/mL

 

3-METHYL-2-KETOVALERIC ACID

< or = 70.0 nmol/mL

 

2-KETOISOCAPROIC ACID

< or = 70.0 nmol/mL

 

2-METHYLCITRIC ACID

< or = 1.0 nmol/mL

 

2-KETOGLUTARIC ACID

< or = 40.0 nmol/mL

Interpretation
Provides information to assist in interpretation of the test results

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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

3-hydroxyisobutyric acid can cause a false elevation in the quantitation of 3-hydroxybutyric acid. Patients affected by 3-hydroxyisobutyric aciduria may have falsely elevated 3-hydroxybutyric acid.

 

Gross elevations of methylmalonic acid may interfere with the quantitation of 3-hydroxyisovaleric and succinic acid. When observed, the report will include a comment indicating presence of interference.

 

Gross elevations of acetoacetic acid may interfere with the quantification of 3-methyl-2-ketovaleric acid. When observed, the report will include a comment indicating presence of interference.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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 February 17, 2022. Available at http://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=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 February 17, 2022. Available at http://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=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 February 17, 2022. Available at http://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=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 February 17, 2022. Available at http://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225087757

Method Description
Describes how the test is performed and provides a method-specific reference

100 mcL of plasma specimen is spiked with a mixture of labeled internal standards following pentafluorobenzyl-oximation of keto acids. The samples are acidified and extracted into ethyl acetate. After evaporation, the dry residue is silylated with N,O,-bis-(trimethylsilyl) trifluoroacetamide with 1% trimethylchlorosilane and analyzed by capillary gas chromatography/mass spectrometry using selected ion monitoring with positive electron impact ionization and stable isotope dilution.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Tuesday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 9 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

2 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
MMPP Mitochondrial Metabolites, P In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
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

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports