Test ID: POX Fatty Acid Profile, Peroxisomal (C22-C26), Serum
Reporting Name
Fatty Acid Profile, Peroxisomal, SUseful 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) using serum specimens
Aiding in the assessment of peroxisomal function
Clinical Information
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 (X-ALD), resulting in elevated concentrations of VLCFA in plasma or serum.
Peroxisomal biogenesis disorders (PBD) include Zellweger syndrome spectrum disorders, which are clinically diverse and range in severity from neonatal lethal (Zellweger syndrome) to more variable clinical courses in neonatal adrenoleukodystrophy and infantile Refsum disease. Affected children typically have hypotonia, poor feeding, distinctive facial features, seizures, and liver dysfunction. Other features can include retinal dystrophy, hearing loss, developmental delays, and bleeding episodes. Rhizomelic chondrodysplasia punctata is another PBD. It is characterized by rhizomelic shortening, chondrodysplasia punctata, cataracts, intellectual disability, and seizures, although it can have a milder phenotype with only cataracts and chondrodysplasia. The typical biochemical profile shows normal VLCFA and elevated phytanic acid.
X-linked adrenoleukodystrophy is an X-linked disorder affecting the central or peripheral nervous system and the adrenal cortex. The most common presentations observed in males includes cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and/or primary adrenocortical insufficiency. CALD presents with behavioral and cognitive changes associated with neurologic decline. Onset can range from childhood (typically 4 to 8 years) to adolescence and adulthood. AMN typically presents in the 20's to 30's with leg weakness, spasticity, clumsy gait, pain, and bladder and bowel dysfunction. Adrenocortical insufficiency onset ranges from age 2 years to adulthood (most commonly by age 7.5 years). Heterozygous females do not typically develop CALD, but are at increased risk to develop symptoms of AMN with increasing age. In 2016, X-ALD was added to the US Recommended Uniform Screening Panel, a list of conditions that are nationally recommended for newborn screening by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.
Refsum disease is a peroxisomal disorder characterized by anosmia, retinitis pigmentosa, neuropathy, deafness, ataxia, ichthyosis, and cardiac abnormalities. The classic biochemical profile of Refsum disease is an elevated plasma or serum phytanic acid level.
Biochemical abnormalities in peroxisomal disorders include accumulations of VLCFA, phytanic acid, and pristanic acid. The differential diagnosis of these disorders is based on recognition of clinical phenotypes combined with a series of biochemical tests to assess peroxisomal function and structure. These include measurements and ratios of VLCFA, pipecolic acid (PIPA / Pipecolic Acid, Serum; PIPU / Pipecolic Acid, Random, Urine), phytanic acid and its metabolite pristanic acid. In addition, confirmatory testing for X-ALD (ABCD1 / X-Linked Adrenoleukodystrophy (XALD), ABCD1 Gene Sequencing with Deletion/Duplication, Varies) via molecular genetic analysis is available.
Interpretation
Reports include concentrations of C22:0, C24:0, C26:0 species, phytanic acid and pristanic acid, and calculated C24:0/C22:0, C26:0/C22:0 and phytanic acid:pristanic acid ratios. When no significant abnormalities are detected, a simple descriptive interpretation is provided.
A profile of elevated phytanic acid, low-normal pristanic acid, and normal very long-chain fatty acids is suggestive of Refsum disease (phytanic acid oxidase deficiency); however, serum phytanic acid concentration may also be increased in disorders of peroxisomal biogenesis and should be considered in the differential diagnosis of peroxisomal disorders.
If results are suggestive of hemizygosity for X-linked adrenoleukodystrophy, the calculated value of a discriminating function that more accurately segregates hemizygous individuals from normal controls is included in the report.
Positive test results could be due to a genetic or nongenetic condition. Additional confirmatory testing would be required to differentiate between these causes.
Testing Algorithm
For more information see:
-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
If the patient has abnormal newborn screening results for X-linked adrenoleukodystrophy, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)
Report Available
3 to 5 daysDay(s) Performed
Monday through Friday
Clinical Reference
1. Newborn Screening ACT Sheet [Elevated Lysophosphatidylcholine] X-Linked Adrenoleukodystrophy (X-ALD). American College of Medical Genetics and Genomics; 2023. Revised November 2023. Accessed July 29, 2025. Available at www.acmg.net/PDFLibrary/X-ALD-ACT-Sheet.pdf
2. Raymond GV, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews [Internet]. University of Washington, Seattle; 1993-2025. Updated Apr 6, 2023. Accessed July 29, 2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1315/
3. Moser AB, Kreiter N, Bezman L, et al. Plasma very long chain fatty acid assay in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol. 1999;45:100-110
4. Turk BR, Theda C, Fatemi A, Moser AB. X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies. Int J Dev Neurosci. 2020;80(1):52-72. doi:10.1002/jdn.10003
5. Waterham HR, Ferdinandusse S, Wanders RJA. Human disorders of peroxisome metabolism and biogenesis. Biochimica et Biophysica Acta. 2016;1863(5):922-933. doi:10.1016/j.bbamcr.2015.11.015
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Specimen Type
SerumNecessary Information
1. Patient's age and sex is required.
2. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Specimen Required
Patient Preparation:
1. Fasting: 12 hours, required; Infants and small children should have specimen collected just before next feeding/meal
2. Patient must not consume any alcohol for 24 hours before the specimen is collected.
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 1.5 mL serum
Collection Instructions: Centrifuge and aliquot serum into plastic vial.
Specimen Minimum Volume
Serum: 0.15 mL
Specimen Stability Information
Specimen Type | Temperature | Time |
---|---|---|
Serum | Frozen (preferred) | 92 days |
Refrigerated | 15 days |
Special Instructions
Reference Values
C22:0
≤96.3 nmol/mL
C24:0
≤91.4 nmol/mL
C26:0
≤1.30 nmol/mL
C24:0/C22:0 Ratio
≤1.39
C26:0/C22:0 Ratio
≤0.023
Pristanic Acid
0-4 months: ≤0.60 nmol/mL
5-8 months: ≤0.84 nmol/mL
9-12 months: ≤0.77 nmol/mL
13-23 months: ≤1.47 nmol/mL
≥24 months: ≤2.98 nmol/mL
Phytanic Acid
0-4 months: ≤5.28 nmol/mL
5-8 months: ≤5.70 nmol/mL
9-12 months: ≤4.40 nmol/mL
13-23 months: ≤8.62 nmol/mL
≥24 months: ≤9.88 nmol/mL
Pristanic/Phytanic Acid Ratio
0-4 months: ≤0.35
5-8 months: ≤0.28
9-12 months: ≤0.23
13-23 months: ≤0.24
≥24 months: ≤0.39
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
82726
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
POX | Fatty Acid Profile, Peroxisomal, S | 43677-4 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
81369 | C22:0 | 30194-5 |
7143 | C24:0 | 30195-2 |
7137 | C26:0 | 30197-8 |
7138 | C24:0/C22:0 | 30196-0 |
7139 | C26:0/C22:0 | 30198-6 |
7140 | Pristanic Acid | 22761-1 |
7141 | Phytanic Acid | 22671-2 |
7142 | Pristanic/Phytanic | 30550-8 |
7144 | Comment | 48767-8 |
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
mml-Movement-Disorders, mml-Demyelinating-Diseases, mml-Neuromuscular, mml-Pediatric, mml-Spinal-Cord, mml-Neurometabolic, mml-Neuro-ophthalmology