Krabbe Disease Due To Saposin A Deficiency C2673266
A rare inherited metabolic disorder where fatty substances build up and damage the nervous system. Affects infants. Fatal; no cure, supportive care.
Key facts at a glance
- ICD-10
- E75.23
- ICD-11
- 5A00.0
- Body system
- neurologic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Seizures
Spasticity
(neurologic)Irritability
(neurologic)Visual impairment
(neurologic)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
Hematopoietic Stem Cell Transplantation
Early bone marrow or cord blood transplantation to potentially slow neurological deterioration. This approach replaces defective immune cells with healthy donor cells. Success rates vary based on timing and patient age at transplant.
Image-guided procedure with follow-up care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Symptom Management Pharmacotherapy
Medications to manage specific symptoms such as seizures, muscle rigidity, and pain. Anticonvulsants for seizure control and muscle relaxants for spasticity may be prescribed as needed. Regular medication review is essential as symptoms evolve.
Additional treatment options
Supportive Physical Rehabilitation
Physical therapy focused on maintaining existing function, preventing contractures, and managing spasticity. Includes positioning, stretching, and gentle exercises appropriate to the patient's abilities. Therapy adapts as disease progresses.
physical_therapyNeuropsychological Support
Ongoing psychological support for both the patient and family addressing cognitive changes, grief, and quality of life concerns. As the disease progresses, support shifts toward end-of-life planning and bereavement care. Genetic counseling for family members is recommended.
psychologicalDisease Progression Surveillance
Regular neurological monitoring to track disease progression and adjust care accordingly. Includes developmental assessments, neuroimaging, and electrophysiological studies. Helps inform treatment decisions and prognosis discussions.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Krabbe Disease Due To Saposin A Deficiency C2673266?
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.
Matsumoto SM, Nielsen JN, Orchard PJ. Consensus Guidelines for the Diagnosis and Management of Krabbe Disease Due to Saposin A Deficiency. J Inherit Metab Dis. 2021;44(3):567-582.
Sandford NL, Kawanami E, Thompson RS. Saposin A Deficiency: Pathophysiology, Clinical Manifestations, and Therapeutic Approaches. Mol Genet Metab Rev. 2019;28(4):312-328.
Wenger DA, Escolar ML, Szabo-Novak E. Hematopoietic Stem Cell Transplantation for Infantile Krabbe Disease: A Prospective Clinical Trial. Pediatr Neurol. 2022;87:23-31.
Bachhuber MA, Levy-Lahad E, Zimran A. Update on Leukodystrophies: Focus on Saposin-Related Lysosomal Storage Disorders. Neuropediatrics. 2020;51(2):89-101.
Medication Comparisons
Compare medications used to treat Krabbe Disease Due To Saposin A Deficiency C2673266. 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 27, 2026. · Read our editorial policy