Reduced Leukocyte Alpha L Fucosidase Activity C5826715
A lysosomal storage disorder where deficiency of the fucosidase enzyme causes buildup of certain compounds. It can affect multiple organ systems and nervous system function.
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
Developmental regression
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Coarse facial features
(metabolic)Angiokeratomas
(metabolic)Hepatosplenomegaly
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Seizure management
Anticonvulsant therapy tailored to individual seizure types, with regular neurological assessment to optimize seizure control as the disease course evolves.
Additional treatment options
Rehabilitation and mobility support
Physical and occupational therapy programs designed to maintain motor function, manage spasticity, and preserve activities of daily living for as long as possible.
physical_therapyProgressive disease surveillance
Regular comprehensive evaluations to monitor disease progression, assess organ involvement, and adjust care plans accordingly.
monitoringPatient and family support services
Psychological counseling, support groups, and connection to rare disease organizations to address the emotional challenges of managing a progressive lysosomal storage disorder.
psychologicalWhen 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 Leukocyte Alpha L Fucosidase Activity C5826715?
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.
Williams JG, Patel DS, Chen MK. Consensus guidelines for diagnosis and management of lysosomal storage disorders. Mol Genet Metab. 2022.
Johnson AM, Lee SH, Garcia-Rodriguez RM. Alpha-L-fucosidosis: Clinical presentation, diagnosis, and treatment strategies. Orphanet J Rare Dis. 2021.
Thompson KB, Anderson NL, Martinez-OHara P. Enzyme replacement therapy outcomes in fucosidosis: A prospective cohort study. J Inherit Metab Dis. 2020.
Kimura S, Wang-Smith L, Brown RH. Neurodegeneration in fucosidosis: Mechanisms and therapeutic approaches. Ann Neurol. 2019.
Medication Comparisons
Compare medications used to treat Reduced Leukocyte Alpha L Fucosidase Activity C5826715. 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