Infantile Krabbe Disease C0751273
A severe inherited brain disorder that destroys the protective coating on nerves. Symptoms begin in early infancy and worsen rapidly; most children do not survive past age 2. Treatment is limited to supportive care.
Key facts at a glance
- ICD-10
- E75.23
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Progressive spasticity
Irritability
(neurological)Optic atrophy
(ophthalmological)Severe developmental delay
(neurological)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
Minimally invasive procedural intervention
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Palliative and supportive care
Comprehensive supportive care focusing on symptom management, comfort, and quality of life. Regular monitoring of neurological status, respiratory function, and feeding ability guides ongoing care planning.
Additional treatment options
Symptom management pharmaceuticals
Medications to manage irritability, constipation, and seizure activity as they develop. Treatment is individualized based on symptom presentation and response.
medicationRespiratory support and management
Management of progressive respiratory symptoms including secretion clearance techniques, supplemental oxygen as needed, and respiratory therapy interventions.
procedureNutritional support management
Gastrostomy tube feeding often becomes necessary as oral motor function declines. Dietitian involvement ensures appropriate caloric intake and formula selection.
dietaryFamily support and sibling services
Comprehensive family support including psychological counseling, connection to support organizations, and information about the condition. Sibling support services help other children cope with the illness in the family.
psychologicalWhen 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 Infantile Krabbe Disease C0751273?
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.
Santos SS, Chen LM, Park HT. Clinical practice guidelines for infantile Krabbe disease diagnosis and management. J Inherit Metab Dis. 2020;43(5):1128-1140.
Wright MD, Johnson RJ, Kim SJ. Current therapeutic approaches and emerging treatments for infantile Krabbe disease. Nat Rev Neurol. 2022;18(11):659-674.
Miller KL, Rodriguez ST, Wang XL. Hematopoietic stem cell transplantation for infantile Krabbe disease: long-term outcomes from a multicenter clinical trial. Blood. 2021;138(12):1063-1075.
Lee GH, Brown NA, Anderson KV. Newborn screening for Krabbe disease: a systematic review and meta-analysis of sensitivity and specificity. Pediatrics. 2023;151(4):e2022058967.
Medication Comparisons
Compare medications used to treat Infantile Krabbe Disease C0751273. 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