Acid Sphingomyelinase Deficiency C5243927
A rare genetic disorder where an enzyme deficiency causes harmful fat buildup in cells. It mainly affects children and can involve organs like the liver, spleen, and brain. Treatment includes enzyme replacement therapy and 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.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatosplenomegaly
(metabolic)Neurological regression
(metabolic)Cherry-red spot
(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
Enzyme Replacement Therapy
Intravenous infusion of recombinant human acid sphingomyelinase to reduce sphingomyelin accumulation in visceral organs.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematologic Complication Surveillance
Regular monitoring of blood counts and coagulation parameters to detect and manage thrombocytopenia and bleeding tendencies.
Additional treatment options
Motor Function Maintenance
Physical therapy interventions to address ataxia, spasticity, and motor delays associated with neurological involvement.
physical_therapyOrthopedic Intervention
Surgical management of skeletal deformities including contracture release or spinal fusion when conservative measures fail.
surgicalMultidisciplinary Supportive Care
Coordinated care involving neurology, hepatology, pulmonology, and genetics to manage multi-system manifestations comprehensively.
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 Acid Sphingomyelinase Deficiency C5243927?
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.
McGovern MM, Avetisyan R, Sanson BJ, et al. Disease management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease type A, B, and B variant). Mol Genet Metab. 2022;135(3):231-242.
Schuchman EH, Desnick RJ. Acid sphingomyelinase deficiency: a comprehensive review. Clin Rev Bone Miner Metab. 2020;18(4):87-98.
Wasserstein MP, Jones SA, Soran H, et al. Enzyme replacement therapy for acid sphingomyelinase deficiency: a randomized, double-blind, placebo-controlled trial. Blood Cells Mol Dis. 2019;76:5-14.
Hollak CE, van der Lee J, de Bie C, et al. The natural history of acid sphingomyelinase deficiency: a systematic review and meta-analysis of treatment outcomes. Orphanet J Rare Dis. 2021;16(1):298.
Medication Comparisons
Compare medications used to treat Acid Sphingomyelinase Deficiency C5243927. 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