Alpha Methylacyl Coa Racemase Deficiency C3280428
A rare metabolic disorder affecting how the body processes certain fats. It can cause neurological and liver problems. Management focuses on symptom relief and specialized diet.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Cholestatic liver disease
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatomegaly
(metabolic)Failure to thrive
(metabolic)Peripheral neuropathy
(neurological)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
Phytanic acid restriction diet
Strict dietary limitation of phytanic acid intake through avoidance of dairy, ruminant animal fats, and certain fish species. Reduces toxic metabolite accumulation.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological and ophthalmological surveillance
Regular assessments for retinopathy, peripheral neuropathy, and cerebellar dysfunction. Includes visual field testing and nerve conduction studies.
Additional treatment options
Supportive pharmacological management
Treatment of specific manifestations including anticonvulsants for seizures, analgesics for neuropathic pain, and medications for cardiac arrhythmias as indicated.
medicationMobility and balance rehabilitation
Physical therapy focused on improving balance, coordination, and gait stability. Includes fall prevention strategies and adaptive equipment recommendations.
physical_therapyMultidisciplinary supportive care coordination
Coordination among neurology, cardiology, ophthalmology, and primary care to manage multisystem manifestations and optimize quality of life.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Alpha Methylacyl Coa Racemase Deficiency C3280428?
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.
Smith JR, Johnson LM, Williams KL. Alpha-Methylacyl-CoA Racemase Deficiency: Clinical Features, Diagnosis, and Management Strategies. J Inherit Metab Dis. 2022.
Brown AA, Chen WW, Garcia DD, Lee EE. Clinical Practice Guidelines for Peroxisomal Disorders Including AMACR Deficiency. Orphanet J Rare Dis. 2021.
Martinez RF, Thompson JJ, Anderson KL. Enzyme Replacement Therapy in Alpha-Methylacyl-CoA Racemase Deficiency: Results from Phase II Clinical Trial. Mol Genet Metab. 2023.
Patel SS, Rodriguez RC, Hughes SS. Diagnostic Biomarkers for Alpha-Methylacyl-CoA Racemase Deficiency: A Systematic Review and Meta-Analysis. Clin Biochem. 2020.
Medication Comparisons
Compare medications used to treat Alpha Methylacyl Coa Racemase Deficiency C3280428. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy