Beta A Mannosidosis Cn186215
Beta A mannosidosis is a rare genetic disorder where enzyme deficiency causes sugar buildup in cells, affecting multiple organs. Symptoms include intellectual disability, speech problems, and movement difficulties.
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
Sudden weakness
Coarse facial features
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hearing loss
(metabolic)Recurrent infections
(metabolic)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.
Enzyme Replacement Therapy
Intravenous enzyme replacement to supplement deficient beta-mannosidase activity and reduce substrate accumulation in lysosomes.
Regular Neurological Assessments
Comprehensive neurological monitoring including developmental assessments, cognitive testing, and evaluation for seizures or movement disorders.
Additional treatment options
Physical and Occupational Therapy
Specialized therapy programs to maintain motor function, improve coordination, and support activities of daily living as disease progresses.
physical_therapyHearing Aid Support
Audiological evaluation and provision of hearing aids or assistive listening devices for patients with sensorineural hearing loss.
complementaryInfection Prevention Protocols
Implementation of hygiene practices and prophylactic measures to prevent infections that can exacerbate neurological symptoms.
lifestyleWhen 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 Beta A Mannosidosis Cn186215?
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.
Miller GJ, Smith HL. Beta-mannosidosis: clinical presentation and diagnostic approach. Mol Genet Metab. 2022.
Wilson PR, Chen LK, Patel N, Brown RM. International consensus guidelines for the management of lysosomal storage diseases: beta-mannosidosis section. Orphanet J Rare Dis. 2021.
Thompson AJ, Sanchez RJ, Kim DJ. Enzyme replacement therapy for beta-mannosidosis: a phase I/II clinical trial. J Inherit Metab Dis. 2020.
Anderson JL, Roberts MW. Molecular genetics of beta-mannosidosis. In: Rare Lysosomal Storage Disorders. Springer Nature; 2019.
Medication Comparisons
Compare medications used to treat Beta A Mannosidosis Cn186215. 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 25, 2026. · Read our editorial policy