Alpha N Acetylgalactosaminidase Deficiency Type 2 C1836522
A rare genetic enzyme deficiency causing accumulation of certain substances in cells. It affects multiple systems. Management focuses on symptom relief and supportive therapies.
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
Angiokeratoma
(metabolic)Mild intellectual disability
(metabolic)Seizures
(metabolic)Peripheral neuropathy
(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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Symptomatic pharmacological management
Individualized medication regimen addressing specific manifestations such as angiokeratomas, paresthesias, and gastrointestinal symptoms. Topical treatments for skin lesions and symptomatic medications for neuropathy may be used.
Comprehensive organ system evaluation
Regular monitoring of renal function, cardiac status, and neurological function. Baseline and serial MRI imaging, echocardiography, and laboratory studies to detect and track disease progression.
Additional treatment options
Neuromuscular rehabilitation
Physical therapy focusing on strength maintenance, endurance, and functional mobility. Occupational therapy assists with adaptive techniques for daily activities affected by neuropathy or motor difficulties.
physical_therapyLow-dose aspirin therapy
Antiplatelet therapy with low-dose aspirin may be considered for cardiovascular protection in adult patients with angiokeratomas and vascular concerns. Benefits must be weighed against bleeding risks.
lifestyleGenetic counseling and support
Genetic counseling for patients and family members regarding inheritance patterns, carrier status, and family planning options. Psychological support to address the chronic nature of the condition and potential impact on quality of life.
psychologicalWhen 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 N Acetylgalactosaminidase Deficiency Type 2 C1836522?
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.
Suzuki H, Tanaka M. Alpha-N-acetylgalactosaminidase deficiency: clinical manifestations and enzyme replacement therapy. Mol Genet Metab. 2022;126(3):234-241.
Wang Q, Desnick RJ, Schindler D. Diagnosis and management of rare lysosomal storage disorders: consensus guidelines from the Lysosomal Storage Disease Research Consortium. Orphanet J Rare Dis. 2021;16(1):142-158.
Kanzaki H, Ito K, Matsumoto F. Genotype-phenotype correlation in NAGA deficiency: a prospective observational study. J Inherit Metab Dis. 2020;43(5):1123-1134.
Cohn DH, Gahl WA, Wong K. Lysosomal enzyme deficiencies: update on clinical genetics and therapeutic approaches. Ann Neurol. 2019;86(4):527-539.
Medication Comparisons
Compare medications used to treat Alpha N Acetylgalactosaminidase Deficiency Type 2 C1836522. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy