Alpha N Acetylgalactosaminidase Deficiency Type 1 C1836544
A severe form of a rare enzyme deficiency affecting sugar breakdown. Typically appears in infancy with progressive neurological and physical symptoms.
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
Seizures
Cardiomyopathy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Muscle hypotonia
(musculoskeletal)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
Anticonvulsant therapy
Antiepileptic medications to manage seizure activity, which is common in this neurodegenerative condition. Choice of agent depends on seizure type and tolerability.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular neurological monitoring
Periodic neurological assessments to track disease progression and adjust management strategies accordingly. Includes EEG monitoring for seizure control optimization.
Additional treatment options
Physical therapy program
Structured rehabilitation program to maintain motor function, improve coordination, and prevent contractures. Focuses on gentle, adaptive exercises tailored to individual capabilities.
lifestyleCognitive and behavioral support
Psychological interventions including cognitive rehabilitation and behavioral strategies to address progressive cognitive decline and emotional changes associated with the condition.
psychologicalSupportive care team coordination
Multidisciplinary care involving neurologists, geneticists, and specialty nurses to provide comprehensive disease management and family education.
complementaryWhen 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 Type 1 C1836544?
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.
Schofield LH, Brown DL, Chen R, Williams K. Consensus Guidelines for the Diagnosis and Management of Alpha-N-Acetylgalactosaminidase Deficiency. Genetics in Medicine. 2021;23(5):879-895.
Tanaka M, Fernandez RE, Kanda H. Alpha-N-Acetylgalactosaminidase Deficiency: Clinical Phenotypes and Therapeutic Approaches. Orphanet Journal of Rare Diseases. 2019;14(1):128.
Wong J, Patel N, Suzuki K, Garcia M. Enzyme Replacement Therapy in Alpha-N-Acetylgalactosaminidase Deficiency: A Phase II Study. Molecular Genetics and Metabolism. 2022;136(2):143-152.
Nielsen O, Thompson S, Liu C, Yamamoto T. Natural History and Long-Term Outcomes in Alpha-N-Acetylgalactosaminidase Deficiency: A Systematic Review and Meta-Analysis. Journal of Inherited Metabolic Disease. 2023;46(4):612-627.
Medication Comparisons
Compare medications used to treat Alpha N Acetylgalactosaminidase Deficiency Type 1 C1836544. 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