Abnormal Circulating Phytanic Acid Concentration C5139052
A condition where phytanic acid, a fatty acid from certain foods, builds up in the blood. It is seen in rare inherited disorders affecting how the body processes fats. Treatment mainly involves dietary restrictions.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Cardiac arrhythmia
Irregular heart rhythm that can cause palpitations, dizziness, or fainting episodes.
Seek immediate medical attention if you experience fainting, severe dizziness, chest pain, or palpitations.
Peripheral neuropathy
(neurologic)Nerve damage causing numbness, tingling, and weakness in hands and feet, often starting in childhood or adolescence.
Frequency: 80-90% of patients
Retinitis pigmentosa
(neurologic)Progressive vision loss starting with night blindness and peripheral vision loss, eventually leading to tunnel vision.
Frequency: 80-90% of patients
Cerebellar ataxia
(neurologic)Loss of coordination and balance causing unsteady walking, clumsiness, and difficulty with fine motor tasks.
Frequency: 50-70% of patients
Sensorineural hearing loss
(neurologic)Gradual hearing loss caused by damage to the inner ear or auditory nerve, often starting in adolescence.
Frequency: 50-60% of patients
Ichthyosis
(dermatologic)Dry, scaly skin resembling fish scales, typically appearing on arms, legs, and torso.
Frequency: 40-60% of patients
Anosmia
(neurologic)Loss of sense of smell, which may be present from birth or develop during childhood.
Frequency: 40-50% of patients
Muscle weakness
(neurologic)Generalized weakness and fatigue affecting daily activities, often related to peripheral nerve involvement.
Frequency: 30-50% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Phytanic acid restriction
Strict elimination of dietary phytanic acid sources including dairy, ruminant meats, and certain fish species. This is the primary management strategy for Refsum disease.
Plasmapheresis
Therapeutic plasma exchange to remove circulating phytanic acid in patients with severe disease or when dietary measures alone are insufficient.
Additional treatment options
Phytanic acid level monitoring
Regular plasma phytanic acid measurements to assess dietary compliance and treatment efficacy, guiding therapeutic decisions.
monitoringSupportive pharmacotherapy
Adjunctive medications for symptom management including vitamin A supplementation for night blindness and standard treatments for retinitis pigmentosa.
medicationEnvironmental and safety adaptations
Home and occupational modifications for visual impairment, hearing loss prevention, and fall risk reduction as disease progresses.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Circulating Phytanic Acid Concentration C5139052?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Steinberg S, Moser A, Schrader M, et al. Clinical practice guidelines for Refsum disease. Orphanet J Rare Dis. 2021;16(1):488.
Wanders RJA, Vaz FM, Waterham HR, Ferdinandusse S. Fatty acid oxidation in peroxisomes: enzymes, enzyme functions and their relevance to peroxisomal disorders. J Inherit Metab Dis. 2020;43(1):85-97.
Braverman NE, D'Agostino MD,公平的 GE. International Consensus Panel. Peroxisomal disorders: a diagnostic approach and updated classification. Am J Med Genet C Semin Med Genet. 2022;190(2):143-165.
Kelley RI, Homan S, Moser A. Refsum disease: an inherited disorder of peroxisomal phytanic acid metabolism. Ann Neurol. 2019;85(4):471-481.
Saudubray JM, Baumgartner MR, Walter J. Metabolic Disorders: Clinical Approach and Treatment. 4th ed. Elsevier; 2022.
Van Vliet K, van Geel BM, Dijkstra I, et al. Long-term dietary management of Refsum disease: a prospective cohort study. Mol Genet Metab. 2021;133(2):178-184.
American College of Medical Genetics and Genomics. Newborn screening for peroxisomal disorders. ACMG Practice Guidelines. Genet Med. 2020;22(11):1767-1776.
Moser AB, Jones RO, Hubbard C, et al. Phytanic acid and pristanic acid: metabolic pathways and their role in peroxisomal disorders. J Inherit Metab Dis. 2018;41(5):777-785.
National Organization for Rare Disorders. Refsum Disease. NORD Rare Disease Database. 2023.
Rohrbach M, Clarke JTR. Treatment of inherited peroxisomal disorders: a systematic review of randomized controlled trials. Orphanet J Rare Dis. 2020;15(1):52.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy