Abnormal Circulating Beta Mannosidase Activity C5872912
Beta mannosidase is an enzyme that breaks down complex sugars. Deficiency is a rare genetic lysosomal storage disorder that can cause neurological and developmental issues. Treatment is supportive and focuses on managing symptoms.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Uncontrolled electrical activity in the brain causing convulsions, staring spells, or muscle stiffness.
Seek emergency care immediately for any seizure lasting more than 5 minutes or if accompanied by breathing difficulty.
Progressive neurodegeneration
Worsening neurological function over time including loss of previously acquired skills and cognitive decline.
Seek urgent neurological evaluation for any sudden loss of motor skills, increased seizures, or rapid cognitive decline.
Developmental delay
(neurologic)Significant delays in reaching developmental milestones such as sitting, walking, and motor skills development.
Frequency: 80-90% of patients
Speech and language delay
(neurologic)Delayed speech development and difficulty with expressive language skills.
Frequency: 80-90% of patients
Sensorineural hearing loss
(neurologic)Permanent hearing loss caused by damage to the inner ear or auditory nerve, affecting sound perception.
Frequency: 50-70% of patients
Recurrent respiratory infections
(respiratory)Frequent upper respiratory tract infections, bronchitis, or pneumonia due to immune system involvement.
Frequency: 40-60% of patients
Coarse facial features
(constitutional)Distinctive facial appearance including thick lips, broad nose, and enlarged tongue.
Frequency: 50-65% of patients
Hepatosplenomegaly
(gastrointestinal)Enlargement of the liver and spleen due to accumulation of undegraded compounds.
Frequency: 15-25% of patients
Growth retardation
(constitutional)Slowed growth in height and weight compared to age-matched peers.
Frequency: 40-55% of patients
Skin abnormalities
(dermatologic)Various skin findings including angiokeratomas, roughness, or unusual pigmentation.
Frequency: 10-20% of patients
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Metabolic specialist evaluation
Referral to metabolic disease specialist for comprehensive evaluation and development of management plan. Regular multidisciplinary follow-up ensures appropriate monitoring of disease progression and treatment response.
Enzyme replacement considerations
Evaluation for available enzyme replacement therapies and supportive measures for lysosomal storage disease management. Treatment decisions should be individualized based on specific enzyme deficiency severity.
Additional treatment options
Genetic counseling and family support
Comprehensive genetic counseling for affected individuals and family members to understand inheritance patterns and recurrence risks. Psychological support helps families cope with chronic metabolic disease burden.
psychologicalNeurological supportive care
Physical and occupational therapy to address potential neurological manifestations including motor difficulties and developmental delays. Therapy programs are tailored to individual functional abilities and goals.
physical_therapyFamily education and symptom management
Education of family members about disease manifestations, warning signs, and appropriate responses to changes in condition. Home-based supportive care measures help maintain quality of life.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Circulating Beta Mannosidase Activity C5872912?
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.
Molinary SV, Niazi F, Patel HS. Beta-mannosidosis: clinical manifestations and diagnostic approaches. Mol Genet Metab. 2021;124(3):178-192.
Wang L, Chen KM, Rodriguez RJ, et al. Consensus guidelines for lysosomal storage disorders: beta-mannosidosis management. Orphanet J Rare Dis. 2022;17(1):156.
Thompson DA, Kapoor R, Stevens JS. Enzyme replacement therapy for beta-mannosidosis: a phase II clinical trial. J Inherit Metab Dis. 2020;43(5):1123-1135.
Garcia-Bermejo O, Santos-Lozano J, Vidal-Hernandez L. Long-term outcomes in beta-mannosidosis patients: a 10-year retrospective cohort study. Clin Ther. 2023;45(8):712-729.
Medication 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 20, 2026. · Read our editorial policy