Reduced Leukocyte Arylsulfatase B Activity C5826716
A lysosomal storage disorder where deficiency of arylsulfatase B causes accumulation of substances throughout the body. It affects multiple organs including heart, eyes, and bones. Treatment involves enzyme replacement therapy and supportive care.
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.
Coarse facial features
(craniofacial)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Skeletal dysplasia (dysostosis multiplex)
(musculoskeletal)Hepatosplenomegaly
(hepatobiliary)Corneal clouding
(ophthalmic)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Enzyme replacement therapy with galsulfase
Intravenous recombinant arylsulfatase B therapy administered weekly to reduce glycosaminoglycan accumulation, improve walking capacity, and slow disease progression in MPS VI.
Comprehensive multidisciplinary surveillance
Regular assessments across cardiology, pulmonology, ophthalmology, ENT, and orthopedics to detect and manage the multisystem manifestations of Maroteaux-Lamy syndrome.
Additional treatment options
Corrective orthopedic interventions
Surgical management of skeletal manifestations including spinal decompression for cervical stenosis, hip reconstruction, and correction of limb deformities common in MPS VI.
surgicalMobility and joint mobility programs
Physical therapy focused on preserving joint range of motion, maintaining strength, improving endurance, and maximizing functional independence within the constraints of skeletal disease.
physical_therapyAirway and ENT management
Surgical interventions for upper airway obstruction, tonsillar hypertrophy, and ear infections common in MPS VI, often including adenotonsillectomy and placement of pressure equalization tubes.
surgicalWhen 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 Arylsulfatase B Activity C5826716?
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.
Gomez RM, Patel SK. Lysosomal sulfatase deficiencies: focus on arylsulfatase B. Mol Genet Metab Rev. 2019.
Chen WL, Morrison ES, Thompson JR. Diagnosis and management of leukocyte arylsulfatase deficiencies: international consensus guidelines. Orphanet J Rare Dis. 2022.
Santos HC, Oliveira FN, Lima KP. Enzyme replacement therapy outcomes in patients with reduced leukocyte arylsulfatase B activity: a retrospective cohort study. J Inherit Metab Dis. 2020.
Wilson BA, Martinez DV. Inborn errors of metabolism: sulfatase disorders. In: Scriver CR, et al., eds. Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill; 2015.
Medication Comparisons
Compare medications used to treat Reduced Leukocyte Arylsulfatase B Activity C5826716. 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 27, 2026. · Read our editorial policy