Metachromatic Leukodystrophy Juvenile Type C0751276
A hereditary disorder where a missing enzyme allows fatty deposits to accumulate in the brain and nervous system, typically affecting children. Treatment aims to manage symptoms and slow progression.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Motor regression
(neurologic)Spasticity
(neurologic)Peripheral neuropathy
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Early HSCT may slow disease progression in selected patients by providing cells capable of producing functional arylsulfatase A enzyme to halt demyelination.
Additional treatment options
Substrate Reduction Therapy
Experimental pharmacologic approaches targeting sulfatide accumulation through substrate reduction mechanisms to potentially slow disease progression.
medicationRehabilitative Care Program
Comprehensive physical, occupational, and speech therapy program addressing motor, functional, and communication needs through disease course.
physical_therapyNeuroimaging and Laboratory Surveillance
Serial MRI brain imaging and biomarker monitoring to assess disease activity and treatment response, guiding clinical decision-making.
monitoringWhen 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 Metachromatic Leukodystrophy Juvenile Type C0751276?
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 25, 2026. · Read our editorial policy