Mucopolysaccharidosis Type 6 Slowly Progressing C5679780
A rare genetic disorder where cellular waste builds up, causing skeletal problems, coarse features, and organ issues. Enzyme replacement therapy and supportive care help manage symptoms.
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.
Warning signs - seek immediate care
Valvular heart disease
Corneal clouding
(ophthalmic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Joint contractures
(musculoskeletal)Recurrent upper respiratory infections
(respiratory)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
Intravenous administration of recombinant arylsulfatase B enzyme to address the underlying enzyme deficiency, reduce GAG accumulation, and slow disease progression in affected tissues and organs.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Multisystem Disease Surveillance
Regular comprehensive monitoring of cardiac, respiratory, ophthalmologic, auditory, and skeletal manifestations through multidisciplinary specialty assessments to detect progression and guide treatment timing.
Additional treatment options
Corrective Orthopedic Interventions
Surgical management of skeletal manifestations including carpal tunnel release, hip reconstruction, and spinal decompression for patients with significant functional impairment or pain unresponsive to conservative measures.
surgicalMobility and Joint Range of Motion Program
Physical therapy focused on maintaining joint flexibility, preventing contractures, improving endurance, and supporting functional mobility through customized exercise programs and positioning strategies.
physical_therapyRespiratory Care and Airway Management
Specialized respiratory therapy including airway clearance techniques, sleep apnea management, and pulmonary hygiene to address progressive respiratory compromise from GAG accumulation in the upper airway.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Mucopolysaccharidosis Type 6 Slowly Progressing C5679780?
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.
Scarpa M, Orchard PJ, Schulz A, et al. Mucopolysaccharidosis Type VI: Clinical Practice Guidelines for Diagnosis and Management. Orphanet J Rare Dis. 2021.
Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2020.
Harman R, Clarke A, Rojek J, et al. Enzyme replacement therapy with galsulfase in pediatric patients with mucopolysaccharidosis type VI: a 5-year follow-up study. Mol Genet Metab. 2018.
Muenzer J, Hendriksz CJ, Graham ML. Hematopoietic stem cell transplantation for mucopolysaccharidosis type VI: systematic review. J Inherit Metab Dis. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy