Mucopolysaccharidosis Type 6 C0026709
MPS Type 6 is a genetic condition where the body cannot break down certain complex sugars, leading to their accumulation in cells. It primarily affects the skeleton and connective tissues. Treatment may include enzyme replacement therapy and supportive measures.
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
Chest pain
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Skeletal dysplasia
(metabolic)Corneal clouding
(metabolic)Hearing loss
(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.
Galsulfase Enzyme Replacement Therapy
Intravenous galsulfase provides exogenous N-acetylgalactosamine 4-sulfatase to metabolize accumulated dermatan sulfate. Regular weekly infusions help reduce urinary glycosaminoglycan excretion and may improve endurance and walking capacity.
Cardiac and Pulmonary Assessment Protocol
Systematic cardiac monitoring including annual echocardiograms and ECGs to track progressive valve disease and cardiomyopathy. Pulmonary function testing to assess restrictive lung disease from skeletal changes.
Additional treatment options
Valve Replacement Surgery
Surgical intervention for severe cardiac valve disease, typically affecting mitral and aortic valves. Valve repair or replacement procedures improve cardiac output and prevent heart failure complications.
surgicalMobility and Joint Preservation Program
Conservative management focusing on maintaining range of motion, preventing contractures, and preserving functional independence through targeted exercises and assistive devices.
physical_therapySpinal Cord Decompression
Surgical decompression of cervical spinal stenosis or craniocervical junction compression to prevent neurological deterioration. Often combined with fusion procedures for instability.
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 Mucopolysaccharidosis Type 6 C0026709?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Mucopolysaccharidosis Type 6 C0026709. 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