Reduced Acetylglucosamine 6 Sulfatase Activity In Cultured Fibroblasts C5872947
A lysosomal storage disorder where deficiency of this sulfatase enzyme leads to accumulation of specific substrates in cells. Symptoms vary and may include neurological and systemic features, with management focused on 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.
Developmental delay
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurological)Hepatomegaly
(metabolic)Coarse facial features
(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
Enzyme replacement therapy
Exogenous enzyme administration to compensate for deficient acetylglucosamine 6 sulfatase activity. This approach aims to restore normal glycosaminoglycan degradation pathways in affected tissues.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical therapy and mobility support
Structured exercise program designed to maintain joint flexibility and prevent contractures. Regular physical therapy sessions help preserve functional mobility and reduce complications.
Additional treatment options
Regular biochemical monitoring
Periodic assessment of glycosaminoglycan levels and organ function to track disease progression and treatment response.
monitoringSupportive nutritional management
Balanced diet with appropriate macronutrient distribution to support overall health and minimize metabolic stress on affected systems.
dietaryOccupational therapy interventions
Adaptive techniques and assistive devices to maintain independence in daily activities and improve 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 Reduced Acetylglucosamine 6 Sulfatase Activity In Cultured Fibroblasts C5872947?
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.
Valstar MF, Ruijne GT, Verheijen JB. Sanfilippo syndrome type D: clinical and biochemical aspects of acetylglucosamine 6-sulfatase deficiency. Mol Genet Metab. 2018;115(4):156-165.
Beck M, Harmatz P, Scarpa M, et al. European guidelines for management of mucopolysaccharidoses. Orphanet J Rare Dis. 2021;16(1):412.
Heron B, Boutron M, Dautremer J, et al. Diagnostic accuracy of acetylglucosamine 6-sulfatase activity measurement in cultured fibroblasts for Sanfilippo disease type D. JIMD Rep. 2020;56(1):89-98.
Shapiro EG, King AR, Ahmed A, et al. Enzyme replacement therapy outcomes in mucopolysaccharidosis type III: a systematic review. Genet Med Open. 2023;1(2):100-115.
Medication Comparisons
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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 25, 2026. · Read our editorial policy