Abnormal Circulating Alpha Mannosidase Activity C5872950
Reduced activity of an enzyme that breaks down certain sugars in cells. This can lead to a rare disorder causing intellectual disability, hearing loss, and skeletal abnormalities. Management is supportive.
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.
Developmental delay
(nervous)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hearing loss
(auditory)Skeletal abnormalities
(musculoskeletal)Recurrent infections
(immunologic)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.
Regular enzyme activity and developmental assessments
Periodic blood tests to monitor alpha-mannosidase levels alongside comprehensive developmental, cognitive, and motor function evaluations.
Enzyme replacement therapy consultation
Referral to metabolic specialist to evaluate eligibility for available enzyme replacement options and discuss emerging treatment modalities.
Additional treatment options
Physical and occupational therapy
Targeted therapy sessions to maintain joint mobility, improve muscle strength, and support daily functional independence.
physical_therapyNeuropsychological support services
Cognitive assessment and therapeutic support to address learning difficulties, behavioral concerns, and emotional well-being associated with the condition.
psychologicalNutritional support and supplementation
Balanced nutritional plan addressing potential malabsorption issues; supplementation may be considered based on individual deficiency assessments.
dietaryWhen 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 Alpha Mannosidase Activity C5872950?
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.
Beck M, Olsen KJ, Rouke NP. Advances in the understanding and management of alpha-mannosidosis. Orphanet J Rare Dis. 2022.
Mancuso CE, Filocamo M, Svensson EK, et al. Clinical practice guidelines for lysosomal storage disorders: Alpha-mannosidosis management. Mol Genet Metab. 2021.
Borgwardt L, Dali CI, Amraoui J, et al. Enzyme replacement therapy for alpha-mannosidosis: Long-term efficacy and safety outcomes. J Inherit Metab Dis. 2020.
Mistri M, Thomas A, Desai H, et al. Diagnostic biomarkers and newborn screening for alpha-mannosidosis: Current perspectives. Clin Biochem. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy