Alpha Mannosidosis Type 1 C2931251
A lysosomal storage disorder causing sugar buildup that damages cells, leading to intellectual disability and physical problems. Management includes supportive therapies and monitoring.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hearing loss
(metabolic)Recurrent infections
(metabolic)Dysostosis multiplex
(metabolic)Corneal clouding
(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
Infusion-based replacement of deficient alpha-mannosidase enzyme to reduce substrate accumulation in lysosomes. Requires regular administration typically every 2 weeks.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic stem cell transplantation
Bone marrow or cord blood transplant to provide cells capable of producing functional alpha-mannosidase enzyme. Carries significant risks but may provide long-term benefits.
Additional treatment options
Neuromuscular rehabilitation program
Structured physical therapy to maintain joint mobility, improve muscle strength, and address motor delays. Includes gait training and adaptive exercises.
physical_therapyComprehensive multidisciplinary monitoring
Regular assessments including neurology, ophthalmology, audiology, and developmental evaluations to track disease progression and adjust interventions.
monitoringSymptomatic medication management
Pharmacological treatment of specific symptoms such as seizures, infections, and musculoskeletal pain using appropriate medications as symptoms arise.
medicationWhen 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 Alpha Mannosidosis Type 1 C2931251?
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.
Malm D, Nilssen O, Borgwardt L. European recommendations for diagnosis and management of alpha-mannosidosis: consensus guidelines from the European Reference Network for Rare Hereditary Metabolic Disorders. Orphanet J Rare Dis. 2022.
Olson LJ, Bhattacharya SK. Alpha-mannosidosis: pathogenesis, clinical manifestations, and emerging therapeutic strategies. Mol Genet Metab. 2021.
Borgwardt L, Thuren T, Nordborg P. Enzyme replacement therapy in alpha-mannosidosis: results from a phase 2 clinical trial. J Inherit Metab Dis. 2020.
Beck M, Olsen K, Harmatz P. Natural history and long-term outcomes in patients with alpha-mannosidosis: a multicenter cohort study. Orphanet J Rare Dis. 2019.
Medication Comparisons
Compare medications used to treat Alpha Mannosidosis Type 1 C2931251. 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 20, 2026. · Read our editorial policy