Gaucher Disease Due To Saposin C Deficiency C1864651
A rare genetic disorder where fatty substances build up in cells due to enzyme deficiency. It can affect various organs and is managed with enzyme replacement therapy.
Key facts at a glance
- ICD-10
- E75.22
- 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
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatosplenomegaly
(gastrointestinal)Anemia
(hematologic)Bone pain
(musculoskeletal)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Enzyme replacement therapy
Intravenous infusion of recombinant glucocerebrosidase to replace deficient enzyme activity, reducing substrate accumulation in macrophages and improving hematological and visceral manifestations.
Substrate reduction therapy
Oral small molecule therapy that reduces production of glucocerebroside substrate, complementing enzyme replacement by decreasing the amount of accumulated material requiring clearance.
Additional treatment options
Comprehensive disease monitoring
Regular assessment including hematological parameters, imaging for organ volumes, bone density testing, and quality of life measures to track disease progression and treatment response.
monitoringBone and joint management
Physical therapy focusing on maintaining joint mobility, managing bone pain, preventing contractures, and improving functional capacity. Includes weight-bearing exercises and aquatic therapy.
physical_therapyActivity modification and support
Lifestyle adaptations including pacing activities to manage fatigue, using assistive devices as needed, maintaining healthy weight, and avoiding activities that stress affected bones or joints.
lifestyleWhen 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 Gaucher Disease Due To Saposin C Deficiency C1864651?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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