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Abnormal Circulating Alpha L Fucosidase Activity C5872914

Published: July 22, 2026Updated: August 20, 2026

Reduced activity of an enzyme that processes certain complex sugars in cells. Deficiency can cause a rare metabolic disorder affecting multiple organs including the brain, skin, and immune system.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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.

Fatigue or weight changes

(metabolic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Neurological deterioration

(nervous)

Angiokeratomas

(dermatologic)

Coarse facial features

(head and neck)

Seizures

(nervous)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Comprehensive multi-system monitoring

Regular assessment of neurological function, cardiac status, respiratory function, and enzyme levels to track disease progression and intervention needs.

monitoring
3

Specialist-led management program

Coordination with metabolic geneticists, neurologists, and multidisciplinary teams to develop individualized care plans based on current symptom burden.

complementary

Additional treatment options

Mobility preservation program

Regular therapy to maintain joint range of motion, prevent contractures, and preserve functional movement as disease progresses.

physical_therapy

Psychosocial support and family counseling

Ongoing psychological support for patients and families to address the emotional impact of progressive neurological conditions and develop coping strategies.

psychological

Swallowing and nutrition management

Assessment and adaptation of food textures and feeding methods as needed to maintain adequate nutrition and prevent aspiration.

dietary

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Abnormal Circulating Alpha L Fucosidase Activity C5872914?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Mancuso MS, Giacopelli F, Ruggieri L. Clinical practice guidelines for diagnosis and management of lysosomal storage disorders with neurological involvement. Mol Genet Metab. 2022.

guideline2022
2

Ben Turkia H, Al-Sannaa NA, Momosaki K. Alpha-L-fucosidase deficiency: clinical manifestations and enzyme replacement therapy outcomes. Orphanet J Rare Dis. 2021.

review2021
3

Wraith JE, Scarpa M, Sanderson F. Enzyme replacement therapy in patients with fucosidosis: a phase II/III clinical trial. J Inherit Metab Dis. 2020.

clinical_trial2020
4

Caciotti A, Morrone A, Cavicchi C. Genotype-phenotype correlations in fucosidosis: a systematic review and meta-analysis. Clin Genet. 2019.

meta_analysis2019

Medication Comparisons

Compare medications used to treat Abnormal Circulating Alpha L Fucosidase Activity C5872914. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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