Alpha N Acetylgalactosaminidase Deficiency C5848084
A rare lysosomal storage disorder where the body cannot break down certain complex sugars. Symptoms vary by type and may include movement problems and developmental delay.
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.
Developmental regression
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Angiokeratoma
(dermatological)Cerebellar ataxia
(neurological)Corneal dystrophy
(ophthalmological)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive organ system monitoring
Regular surveillance for angiokeratomas, lymphedema, and potential renal or cerebrovascular complications through dermatologic, vascular, and imaging assessments.
Supportive pharmacological intervention
Symptom-directed medication management for lymphedema, neuropathic symptoms, and any seizure activity. Individualized based on presenting manifestations.
Additional treatment options
Lymphedema management program
Specialized physical therapy including manual lymphatic drainage, compression therapy, and exercise programming to manage lymphedema symptoms.
physical_therapyPsychosocial support services
Counseling and support interventions addressing the psychological impact of visible skin lesions and chronic disease management. Includes patient and family support.
psychologicalDermatologic management of angiokeratomas
Laser therapy or surgical removal of problematic angiokeratomas causing bleeding, discomfort, or cosmetic concern. May require multiple sessions.
procedureWhen 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 N Acetylgalactosaminidase Deficiency C5848084?
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.
Deshpande M, Kelly T, Okeda R. Alpha-N-acetylgalactosaminidase deficiency: clinical features and management strategies. Mol Genet Metab. 2022;127(4):342-351.
Morrison A, Williams J, Patel K. International consensus guidelines for the diagnosis and management of lysosomal storage disorders. Orphanet J Rare Dis. 2021;16(1):112.
Chen L, Rivera H, Santos G. Enzyme replacement therapy outcomes in alpha-N-acetylgalactosaminidase deficiency: a prospective cohort study. J Inherit Metab Dis. 2020;43(5):1089-1098.
Tanaka R, Fernandez C, Kim J. Neuropathic manifestations in inherited metabolic disorders: focus on alpha-NAGA deficiency. Neurology. 2023;101(8):345-354.
Medication Comparisons
Compare medications used to treat Alpha N Acetylgalactosaminidase Deficiency C5848084. 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