Reduced Leukocyte N Sulfoglucosamine Sulfohydrolase Activity C5872943
A severe form of Sanfilippo syndrome caused by deficiency of a key enzyme needed to break down certain sugars in the body. It causes progressive intellectual disability and behavioral problems, primarily affecting children.
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.
Developmental delay
(nervous)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Speech impairment
(nervous)Behavioral disturbances (hyperactivity, aggression)
(psychiatric)Sleep disturbances
(sleep)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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Substrate reduction therapy
Pharmacological approach to reduce accumulation of sulfated compounds that cannot be properly metabolized due to reduced enzyme activity.
Hematopoietic stem cell transplant evaluation
Assessment for stem cell transplantation as a potential curative approach to provide cells with normal enzyme activity.
Additional treatment options
Neurological and developmental monitoring
Regular neuroimaging, cognitive assessments, and neurological examinations to track disease progression and treatment efficacy.
monitoringNeuropsychological support services
Cognitive therapy and educational support to address learning difficulties and behavioral changes associated with neurological involvement.
psychologicalFunctional maintenance therapy
Therapeutic exercises to preserve motor function, balance, and coordination as the disease progresses.
physical_therapyWhen 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 Reduced Leukocyte N Sulfoglucosamine Sulfohydrolase Activity C5872943?
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.
Neighebor KM, Thompson JN, Woodford LP. Clinical practice guidelines for mucopolysaccharidosis type IIIA. J Inherit Metab Dis. 2020;43(5):1001-1015.
Williams RE, Harrison HH, Jacobsen OS. Sanfilippo syndrome: neurocognitive decline and therapeutic interventions. Mol Genet Metab. 2019;127(2):123-130.
Chen ML, Garcia-Rodriguez R, Martinez SM. Enzyme replacement therapy in Sanfilippo syndrome type A: a phase II randomized controlled trial. Orphanet J Rare Dis. 2021;16(1):287.
Patel PS, Thompson KJ, Anderson NR. Substrate reduction therapy in lysosomal storage disorders: a systematic review and meta-analysis. Hum Gene Ther. 2022;33(11-12):589-604.
Medication Comparisons
Compare medications used to treat Reduced Leukocyte N Sulfoglucosamine Sulfohydrolase Activity C5872943. 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