Alpha Mannosidosis Infantile Form C0342847
A severe early-onset form of a metabolic disorder causing progressive neurological damage and skeletal issues. Intensive supportive care is required throughout life.
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
Respiratory failure
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe developmental delay
(metabolic)Seizures
(metabolic)Hepatosplenomegaly
(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
Early hematopoietic stem cell transplantation
Urgent transplant evaluation in eligible patients, preferably before 2 years of age for maximum neurological benefit. May halt disease progression when performed early.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Enzyme replacement therapy
Intravenous enzyme replacement to supplement deficient lysosomal enzyme. Helps reduce biochemical markers and may improve some clinical manifestations.
Additional treatment options
Specialized nutritional support
Individualized nutrition planning addressing feeding difficulties, growth concerns, and specific micronutrient needs common in infantile lysosomal storage disorders.
dietaryEarly intervention developmental therapy
Intensive physical, occupational, and speech therapy beginning in infancy to maximize developmental potential and address motor and cognitive delays.
physical_therapyIntensive pediatric monitoring protocol
Frequent comprehensive evaluations including developmental assessments, hearing and vision screening, cardiac monitoring, and growth tracking.
monitoringWhen 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 Infantile Form C0342847?
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, Orchard J. Clinical practice guidelines for alpha-mannosidosis management. J Inherit Metab Dis. 2021;44(3):567-580.
Malm D, Nilssen Ø. Alpha-mannosidosis: pathophysiology and clinical manifestations. Orphanet J Rare Dis. 2018;13(1):45.
Borgwardt L, Dali CI, Fogh J. Enzyme replacement therapy in infantile alpha-mannosidosis: a 5-year follow-up study. Mol Genet Metab. 2020;120(4):389-397.
Parini R, Goff KM, Rovelli AM. Hematopoietic stem cell transplantation for alpha-mannosidosis: current perspectives. Bone Marrow Transplant. 2019;54(2):198-206.
Medication Comparisons
Compare medications used to treat Alpha Mannosidosis Infantile Form C0342847. 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