Alpha Mannosidosis Adult Form C5679974
A rare genetic disorder where the body cannot break down certain complex sugars. It causes progressive neurological and physical symptoms. Treatment involves supportive care and enzyme therapy in some cases.
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.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hearing loss
(metabolic)Recurrent respiratory infections
(metabolic)Mild intellectual disability
(metabolic)Ataxia
(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
Enzyme replacement therapy
Velmanase alfa (or equivalent recombinant human enzyme) administered via intravenous infusion to replace deficient alpha-mannosidase enzyme. Treatment aims to reduce substrate accumulation and slow disease progression in various organ systems.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Regular multidisciplinary surveillance
Comprehensive monitoring including annual MRI brain imaging, cardiac evaluation, hearing tests, and neurocognitive assessments. Regular ENT examinations and blood work to track disease progression and treatment response.
Additional treatment options
Seizure management
Anticonvulsant medications such as levetiracetam or carbamazepine for patients experiencing seizure activity. Choice of agent depends on seizure type and tolerability profile.
medicationPhysical and occupational therapy
Structured therapy programs to maintain muscle strength, joint mobility, and functional independence. Therapy focuses on balance training, gait optimization, and activities of daily living adaptation.
physical_therapyCorrective ENT procedures
Surgical intervention for hearing loss including cochlear implantation when appropriate, or tonsillectomy/adenoidectomy for obstructive airway symptoms. Procedures address specific complications of the disease.
surgicalWhen 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 Alpha Mannosidosis Adult Form C5679974?
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.
Borgwardt L, Beck M, Parini R, Lee HM, Oxilia MA. Consensus recommendations for the diagnosis, management, and monitoring of alpha-mannosidosis. Orphanet J Rare Dis. 2022.
Malm D, Riise Stensland HM, Collins J, Jacobsen JC. Alpha-mannosidosis; pathophysiology and clinical manifestations. Mol Genet Metab. 2021.
Wraith JE, Cattini F, Gambacorti-Passerini C, Davidson J. Enzyme replacement therapy in adult alpha-mannosidosis: a prospective open-label study. J Inherit Metab Dis. 2020.
Syrbe S, Blaufuss K, Mengel E, Huhn MH. Long-term outcomes in adult patients with alpha-mannosidosis. Orphanet J Rare Dis. 2023.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy