Hexosaminidase B Paris C4016989
A rare inherited metabolic disorder causing deficiency of the Hexosaminidase B enzyme, leading to toxic buildup in cells. It causes progressive neurological decline and is typically severe.
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
Developmental regression
Seizures
Vision loss
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hearing loss
(otologic)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
Multisystem health surveillance
Regular comprehensive monitoring of cardiac, renal, and endocrine systems commonly affected in mosaic 12p aneuploidy.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Symptomatic pharmaceutical management
Targeted medications for specific manifestations such as hormonal supplementation, cardiac medications, or anticonvulsants as needed.
Additional treatment options
Developmental physical therapy
Early intervention physical therapy to address hypotonia, motor delays, and promote optimal physical development.
physical_therapyDevelopmental psychology services
Cognitive assessment, behavioral intervention, and educational planning to support intellectual development and learning needs.
psychologicalNutritional counseling
Dietary assessment and management addressing feeding challenges, metabolic considerations, and optimal growth support.
dietaryWhen 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 Hexosaminidase B Paris C4016989?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy