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Test ID PFAPC Fatty Acid Profile, Comprehensive (C8-C26), Plasma

Useful For

This plasma test is a comprehensive profile that provides information regarding mitochondrial and peroxisomal fatty acid metabolism, and the patient's nutritional status

 

Monitoring patients undergoing diet therapy for mitochondrial or peroxisomal disorders (possibly inducing essential fatty acid deficiency in response to restricted fat intake)

 

Monitoring treatment of essential fatty acid deficiency

 

Monitoring the response to provocative tests (fasting tests, loading tests)

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis

Reporting Name

Fatty Acid Profile, Comprehensive, P

Specimen Type

Plasma


Specimen Required


Collection Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: EDTA or lithium heparin

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions:

1. Fasting overnight (12-14 hours).

2. Patient must not consume any alcohol for 24 hours before the specimen is drawn.

3. Spin down within 45 minutes of draw.

Additional Information:

1. Patient's age is required.

2. Include information regarding treatment, family history, and tentative diagnosis.


Specimen Minimum Volume

0.15 mL

Specimen Stability Information

Specimen Type Temperature Time
Plasma Frozen (preferred) 92 days
  Refrigerated  72 hours

Clinical Information

Fatty Acid Deficiency/Excess:

Fats are important sources of energy for tissues and for the function and integrity of cellular membranes. Deficiencies are commonly caused by inadequate dietary intake of lipids due to an unbalanced diet, long-term parenteral nutrition, or by intestinal malabsorption. Linoleic acid, an omega-6 fatty acid, and alpha-linolenic acid, an omega-3 fatty acid, are considered essential fatty acids in that they cannot be made by the body and are essential components of the diet.

 

The major clinical manifestations associated with essential fatty acid deficiency (EFAD) include dermatitis, increased water permeability of the skin, increased susceptibility to infection, and impaired wound healing. Biochemical abnormalities may be detected before the onset of recognizable clinical manifestations. EFAD can be detected by diminished levels of the essential fatty acids linoleic acid and alpha-linolenic acid, as well as by increases in the triene:tetraene ratio.

 

Excess dietary fatty acids have been linked to the onset of cardiovascular disease. Elevated levels of linoleic acid can contribute to overproduction of the proinflammatory 2-series local hormones.

 

Fatty Acid Oxidation (FAO) Disorders:

Mitochondrial beta-oxidation is the main source of energy to skeletal and heart muscle during periods of fasting. When the body's supply of glucose is depleted, fatty acids are mobilized from adipose tissue and converted to ketone bodies thorough a series of steps providing an alternate source of energy. Deficient enzymes at any step in this pathway prevent the production of energy during periods of physiologic stress such as fasting or intercurrent illness.

 

The major clinical manifestations associated with FAO disorders include hypoketotic hypoglycemia, liver disease and failure, skeletal myopathy, dilated/hypertrophic cardiomyopathy, and sudden unexpected death in early life. Signs and symptoms may vary greatly in severity, combination, and age of presentation. Life-threatening episodes of metabolic decompensation frequently occur after periods of inadequate calorie intake or intercurrent illness. When properly diagnosed, patients with FAO disorders respond favorably to fasting avoidance, diet therapy, and aggressive treatment of intercurrent illnesses, with significant reduction of morbidity and mortality.

 

Disease-specific characteristic patterns of metabolites from FAO disorders are detectable in blood, bile, urine, and cultured fibroblasts of living and many deceased individuals. Quantitative determination of C8-C18 fatty acids is an important element of the workup and differential diagnosis of candidate patients. Fatty acid profiling can detect quantitatively modest, but nevertheless significant, abnormalities even when patients are asymptomatic and under dietary treatment. Enzyme and molecular confirmatory testing is also available for many of the FAO disorders at Mayo Medical Laboratories.

 

Peroxisomal Disorders:

Peroxisomes are organelles present in all human cells except mature erythrocytes. They carry out essential metabolic functions including beta-oxidation of very long-chain fatty acids (VLCFA), alpha-oxidation of phytanic acid, and biosynthesis of plasmalogen and bile acids. Peroxisomal disorders include disorders of peroxisomal biogenesis with defective assembly of the entire organelle and single peroxisomal enzyme/transporter defects where the organelle is intact but a specific function is disrupted. Peroxisomal beta-oxidation of VLCFA is impaired in all disorders of peroxisomal biogenesis and in selected single enzyme deficiencies, particularly X-linked adrenoleukodystrophy, resulting in elevated concentrations of VLCFA in serum or plasma. POXP / Fatty Acid Profile, Peroxisomal (C22-C26), Plasma or POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum is the preferred screening test for evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism such as X-linked adrenoleukodystrophy, or peroxisomal biogenesis disorders (Zellweger syndrome spectrum). Confirmatory testing for X-linked adrenoleukodystrophy (XALDZ / X-Linked Adrenoleukodystrophy, Full Gene Analysis) via molecular genetic analysis is available at Mayo Medical Laboratories.

Reference Values

Octanoic Acid, C8:0

<1 year: 7-63 nmol/mL

1-17 years: 9-41 nmol/mL

≥18 years: 8-47 nmol/mL

 

Decenoic Acid, C10:1

<1 year: 0.8-4.8 nmol/mL

1-17 years: 1.6-6.6 nmol/mL

≥18 years: 1.8-5.0 nmol/mL

 

Decanoic Acid, C10:0

<1 year: 2-62 nmol/mL

1-17 years: 3-25 nmol/mL

≥18 years: 2-18 nmol/mL

 

Lauroleic Acid, C12:1

<1 year: 0.6-4.8 nmol/mL

1-17 years: 1.3-5.8 nmol/mL

≥18 years: 1.4-6.6 nmol/mL

 

Lauric Acid, C12:0

<1 year: 6-190 nmol/mL

1-17 years: 5-80 nmol/mL

≥18 years: 6-90 nmol/mL

 

Tetradecadienoic Acid, C14:2

<1 year: 0.3-6.5 nmol/mL

1-17 years: 0.2-5.8 nmol/mL

≥18 years: 0.8-5.0 nmol/mL

 

Myristoleic Acid, C14:1

<1 year: 1-46 nmol/mL

1-17 years: 1-31 nmol/mL

≥18 years: 3-64 nmol/mL

 

Myristic Acid, C14:0

<1 year: 30-320 nmol/mL

1-17 years: 40-290 nmol/mL

≥18 years: 30-450 nmol/mL

 

Hexadecadienoic Acid, C16:2

<1 year: 4-27 nmol/mL

1-17 years: 3-29 nmol/mL

≥18 years: 10-48 nmol/mL

 

Hexadecenoic Acid, C16:1w9

<1 year: 21-69 nmol/mL

1-17 years: 24-82 nmol/mL

≥18 years: 25-105 nmol/mL

 

Palmitoleic Acid, C16:1w7

<1 year: 20-1,020 nmol/mL

1-17 years: 100-670 nmol/mL

≥18 years: 110-1,130 nmol/mL

 

Palmitic Acid, C16:0

<1 year: 720-3,120 nmol/mL

1-17 years: 960-3,460 nmol/mL

≥18 years: 1,480-3,730 nmol/mL

 

Gamma-Linolenic Acid, C18:3w6

<1 year: 6-110 nmol/mL

1-17 years: 9-130 nmol/mL

≥18 years: 16-150 nmol/mL

 

Alpha-Linolenic Acid, C18:3w3

<1 year: 10-190 nmol/mL

1-17 years: 20-120 nmol/mL

≥18 years: 50-130 nmol/mL

 

Linoleic Acid, C18:2w6

≤31 days: 350-2,660 nmol/mL

32 days-11 months: 1,000-3,300 nmol/mL

1-17 years: 1,600-3,500 nmol/mL

≥18 years: 2,270-3,850 nmol/mL

 

Oleic Acid, C18:1w9

<1 year: 250-3,500 nmol/mL

1-17 years: 350-3,500 nmol/mL

≥18 years: 650-3,500 nmol/mL

 

Vaccenic Acid, C18:1w7

<1 year: 140-720 nmol/mL

1-17 years: 320-900 nmol/mL

≥18 years: 280-740 nmol/mL

 

Stearic Acid, C18:0

<1 year: 270-1,140 nmol/mL

1-17 years: 280-1,170 nmol/mL

≥18 years: 590-1,170 nmol/mL

 

EPA, C20:5w3

<1 year: 2-60 nmol/mL

1-17 years: 8-90 nmol/mL

≥18 years: 14-100 nmol/mL

 

Arachidonic Acid, C20:4w6

<1 year: 110-1,110 nmol/mL

1-17 years: 350-1,030 nmol/mL

≥18 years: 520-1,490 nmol/mL

 

Mead Acid, C20:3w9

≤31 days: 8-60 nmol/mL

32 days-11 months: 3-24 nmol/mL

≥1 year: 7-30 nmol/mL

 

Homo-Gamma-Linolenic Acid, C20:3w6

<1 year: 30-170 nmol/mL

1-17 years: 60-220 nmol/mL

≥18 years: 50-250 nmol/mL

 

Arachidic Acid, C20:0

<1 year: 30-120 nmol/mL

1-17 years: 30-90 nmol/mL

≥18 years: 50-90 nmol/mL

 

DHA, C22:6w3

<1 year: 10-220 nmol/mL

1-17 years: 30-160 nmol/mL

≥18 years: 30-250 nmol/mL

 

DPA, C22:5w6

<1 year: 3-70 nmol/mL

1-17 years: 10-50 nmol/mL

≥18 years: 10-70 nmol/mL

 

DPA, C22:5w3

<1 year: 6-110 nmol/mL

1-17 years: 30-270 nmol/mL

≥18 years: 20-210 nmol/mL

 

DTA, C22:4w6

<1 year: 2-50 nmol/mL

1-17 years: 10-40 nmol/mL

≥18 years: 10-80 nmol/mL

 

Docosenoic Acid, C22:1

<1 year: 2-20 nmol/mL

≥1 year: 4-13 nmol/mL

 

Docosanoic Acid, C22:0

0.0-96.3 nmol/mL

 

Nervonic Acid, C24:1

<1 year: 30-150 nmol/mL

1-17 years: 50-130 nmol/mL

≥18 years: 60-100 nmol/mL

 

Tetracosanoic Acid, C24:0

0.0-91.4 nmol/mL

 

Hexacosenoic Acid, C26:1

<1 year: 0.2-2.1 nmol/mL

≥1 year: 0.3-0.7 nmol/mL

 

Hexacosanoic Acid, C26:0

0.00-1.30 nmol/mL

 

Pristanic Acid, C15:0(CH3)4

≤4 months: 0.00-0.60 nmol/mL

5-8 months: 0.00-0.84 nmol/mL

9-12 months: 0.00-0.77 nmol/mL

13-23 months: 0.00-1.47 nmol/mL

≥2 years: 0.00-2.98 nmol/mL

 

Phytanic Acid, C16:0(CH3)4

≤4 months: 0.00-5.28 nmol/mL

5-8 months: 0.00-5.70 nmol/mL

9-12 months: 0.00-4.40 nmol/mL

13-23 months: 0.00-8.62 nmol/mL

≥2 years: 0.00-9.88 nmol/mL

 

Triene/Tetraene Ratio

≤31 days: 0.017-0.083

32 days-17 years: 0.013-0.050

≥18 years: 0.010-0.038

 

Total Saturated Acid

<1 year: 1.2-4.6 mmol/L

1-17 years: 1.4-4.9 mmol/L

≥18 years: 2.5-5.5 mmol/L

 

Total Monounsaturated Acid

<1 year: 0.3-4.6 mmol/L

1-17 years: 0.5-4.4 mmol/L

≥18 years: 1.3-5.8 mmol/L

 

Total Polyunsaturated Acid

<1 year: 1.1-4.9 mmol/L

1-17 years: 1.7-5.3 mmol/L

≥18 years: 3.2-5.8 mmol/L

 

Total w3

<1 year: 0.0-0.4 mmol/L

1-17 years: 0.1-0.5 mmol/L

≥18 years: 0.2-0.5 mmol/L

 

Total w6

<1 year: 0.9-4.4 mmol/L

1-17 years: 1.6-4.7 mmol/L

≥18 years: 3.0-5.4 mmol/L

 

Total Fatty Acids

<1 year: 3.3-14.0 mmol/L

1-17 years: 4.4-14.3 mmol/L

≥18 years: 7.3-16.8 mmol/L

Interpretation

An increased triene:tetraene ratio is consistent with essential fatty acid deficiency.

 

Fatty acid oxidation disorders are recognized on the basis of disease-specific patterns that are correlated to the results of other investigations in plasma (carnitine, acylcarnitines) and urine (organic acids, acylglycines).

 

Increased concentrations of very long-chain fatty acids (VLCFA) C24:0 and C26:0 are seen in peroxisomal disorders, X-linked adrenoleukodystrophy, adrenomyeloneuropathy, and Zellweger syndrome (cerebrohepatorenal syndrome).

 

Increased concentrations of phytanic acid (along with normal pristanic acid concentrations) are seen in the Refsum disease (phytanase deficiency). Phytanic acid concentration also may be increased in other peroxisomal disorders and, when combined with the VLCFA, pristanoic acid, and pipecolic acid, allows differential diagnosis of peroxisomal disorders.

Clinical Reference

1. Stellaard F, ten Brink HJ, Kok RM et al: Stable isotope dilution analysis of very long chain fatty acids in plasma, urine, and amniotic fluid by electron capture negative ion mass fragmentography. Clin Chim Acta 1990;192:133-144

2. ten Brink HJ, Stellaard F, van den Heuvel et al: Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. J Lipid Res 1992;33:41-47

3. Rinaldo P, Matern D, Bennett MJ: Fatty acid oxidation disorders. Ann Rev Physiol 2002;64:477-502

4. Jeppesen PB, Chistensen MS, Hoy CE, Mortensen PB: Essential fatty acid deficiency in patients with severe fat malabsorption. Am J Clin Nutr 1997;65:837-843

Day(s) and Time(s) Performed

Monday through Friday; 7 a.m.

Analytic Time

4 days (not reported on Saturdays or Sundays)

Test Classification

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 U.S. Food and Drug Administration.

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PFAPC Fatty Acid Profile, Comprehensive, P 43674-1

 

Result ID Test Result Name Result LOINC Value
36595 Octanoic Acid, C8:0 35145-2
36596 Decenoic Acid, C10:1 35147-8
36597 Decanoic Acid, C10:0 35146-0
36598 Lauroleic Acid, C12:1 35151-0
36599 Lauric Acid, C12:0 35150-2
36600 Tetradecadienoic Acid, C14:2 35148-6
36601 Myristoleic Acid, C14:1 35158-5
36602 Myristic Acid, C14:0 35157-7
36603 Hexadecadienoic Acid, C16:2 35154-4
36604 Hexadecenoic Acid, C16:1w9 35155-1
36605 Palmitoleic Acid, C16:1w7 35162-7
36606 Palmitic Acid, C16:0 35161-9
36607 g-Linolenic Acid, C18:3w6 35163-5
36608 a-Linolenic Acid, C18:3w3 35164-3
36609 Linoleic Acid, C18:2w6 35165-0
36610 Oleic Acid, C18:1w9 35166-8
36611 Vaccenic Acid, C18:1w7 35167-6
36612 Stearic Acid, C18:0 35149-4
36613 EPA, C20:5w3 35173-4
36614 Arachidonic Acid, C20:4w6 35168-4
36615 Mead Acid, C20:3w9 35172-6
36616 h-g-Linolenic Acid, C20:3w6 35171-8
36617 Arachidic Acid, C20:0 35169-2
36618 DHA, C22:6w3 35174-2
36619 DPA, C22:5w6 35181-7
36620 DPA, C22:5w3 35180-9
36621 DTA, C22:4w6 35182-5
36622 Docosenoic Acid, C22:1 35160-1
36623 Docosanoic Acid, C22:0 30194-5
36624 Nervonic Acid, C24:1w9 35170-0
36625 Tetracosanoic Acid, C24:0 30195-2
36626 Hexacosenoic Acid, C26:1 33036-5
36627 Hexacosanoic Acid, C26:0 30197-8
36628 Pristanic Acid, C15:0(CH3)4 22761-1
36629 Phytanic Acid, C16:0(CH3)4 22671-2
36630 Triene Tetraene Ratio 35411-8
36631 Total Saturated 35175-9
36632 Total Monounsaturated 35176-7
36633 Total Polyunsaturated 35177-5
36634 Total w3 35178-3
36635 Total w6 35179-1
36636 Total Fatty Acids 24461-6
36637 Interpretation (PFAPC) 59462-2