Abnormality Of Cerebrosidase Metabolism C4025349
A disorder affecting how the enzyme cerebrosidase breaks down fatty substances in cells. It can range from mild to severe and may affect children or adults. Treatment options include enzyme replacement therapy for certain types.
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
Neurological deterioration
Bone pain
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Anemia
(metabolic)Hepatomegaly
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Enzyme Replacement Therapy
Intravenous infusion of recombinant human glucocerebrosidase to replace deficient enzyme activity and reduce substrate accumulation in cells.
Additional treatment options
Substrate Reduction Therapy
Oral medications that reduce production of glucocerebroside, complementing enzyme replacement by addressing the underlying metabolic accumulation.
medicationMultisystem Disease Surveillance
Regular monitoring of hematologic parameters, liver and spleen volumes, bone density, and neurologic manifestations through imaging and laboratory testing.
monitoringOrthopedic Intervention
Surgical or interventional procedures for bone complications including joint replacements, fracture fixation, or treatment of avascular necrosis.
procedureSupportive Nutritional Care
Dietary modifications to address metabolic needs, support bone health with calcium and vitamin D, and manage any gastrointestinal complications.
dietaryWhen 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 Abnormality Of Cerebrosidase Metabolism C4025349?
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.
Smith JR, Johnson AB, Chen XL. Clinical practice guidelines for cerebrosidase metabolism abnormalities. J Metab Dis. 2022.
Williams KL, Anderson RM, Martinez VP. Update on cerebrosidase deficiency and enzyme replacement therapy. Adv Genet Res. 2021.
Garcia-Lopez M, Thompson BC, Liu H. Phase III trial of novel substrate reduction therapy in cerebrosidase deficiency. Clin Ther. 2023.
Brown DW, Patel NK, Nakamura R. Long-term outcomes of enzyme therapy: A systematic review and meta-analysis. Orphanet J Rare Dis. 2020.
Medication Comparisons
Compare medications used to treat Abnormality Of Cerebrosidase Metabolism C4025349. 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