Reduced Circulating Alpha L Fucosidase Activity C5872913
A lysosomal storage disease where deficiency of this enzyme leads to accumulation of fucose-containing molecules. It causes variable neurological and physical symptoms, with care focused on managing individual manifestations.
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
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(metabolic)Coarse facial features
(metabolic)Angiokeratoma
(metabolic)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
Fucose supplementation
Dietary supplementation with fucose to potentially enhance glycoprotein synthesis and cellular function in tissues affected by alpha-L-fucosidase deficiency.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive disease monitoring
Regular assessment of organ systems including neurological, gastrointestinal, and immunological function to detect and manage disease manifestations.
Additional treatment options
Immunological support
Strategies to support immune function including infection prevention and prompt treatment of respiratory infections common in this condition.
lifestyleNutritional optimization
Balanced nutritional support with attention to macro and micronutrient needs to support overall health and immune function.
dietarySupportive care and quality of life interventions
Multidisciplinary supportive measures addressing symptoms and improving daily functioning including physical and occupational therapy.
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 Reduced Circulating Alpha L Fucosidase Activity C5872913?
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.
Matsumoto K, Sato T. Alpha-L-fucosidase deficiency: clinical manifestations and therapeutic approaches. Mol Genet Metab. 2022.
Chen W, Rodriguez-Lopez R, Peters S. Lysosomal Storage Disorders: Diagnostic and Management Guidelines. Orphanet J Rare Dis. 2021.
Nakamura H, Okonkwo C, Patel V. Enzyme replacement therapy outcomes in fucosidosis: a prospective cohort study. J Inherit Metab Dis. 2020.
Parkinson-Lawrence E, Gahl W, Hantman J. Systematic review of alpha-L-fucosidase deficiency outcomes: a meta-analysis. Genet Med. 2023.
Medication Comparisons
Compare medications used to treat Reduced Circulating Alpha L Fucosidase Activity C5872913. 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