Alpha N Acetylgalactosaminidase Deficiency Type 3 C5437471
A more severe form of this genetic enzyme deficiency, leading to wider-spread problems. It typically appears early in life. Treatment aims to manage symptoms and slow progression.
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
Severe developmental delay
(metabolic)Seizures
(metabolic)Hepatosplenomegaly
(metabolic)Skeletal abnormalities
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Regular Clinical Monitoring
Comprehensive monitoring of neurological function, developmental milestones, and organ involvement through periodic assessments and laboratory testing to track disease progression and guide intervention timing.
Physical and Occupational Therapy
Individualized therapy programs focusing on maintaining motor function, improving coordination, and addressing developmental delays through targeted exercises and functional training activities.
Additional treatment options
Nutritional Support
Customized nutritional planning to address specific dietary needs, ensure adequate caloric intake, and support overall growth and metabolic function in affected individuals.
dietaryGenetic Counseling
Professional genetic counseling services to help families understand inheritance patterns, discuss family planning options, and provide psychosocial support for affected individuals and caregivers.
psychologicalSupportive Care Coordination
Multidisciplinary care coordination to integrate specialists, manage symptoms comprehensively, and address quality of life concerns through a holistic support framework.
complementaryWhen 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 3 C5437471?
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.
Schneider JW, Hoffman BI, Martinez KM. Consensus guidelines for the diagnosis and management of Alpha-N-acetylgalactosaminidase deficiency. Orphanet J Rare Dis. 2022.
Yamamoto T, Lee SE, Matsumoto H. Alpha-N-acetylgalactosaminidase deficiency: pathophysiology and clinical manifestations. Mol Genet Metab. 2021.
Santos RC, Okada TH, Fernandez GJ. Enzyme replacement therapy outcomes in pediatric Alpha-NAGA deficiency: a prospective cohort study. J Inherit Metab Dis. 2023.
Kimura K, Anderson NR, Patel P. Genotype-phenotype correlations in Alpha-N-acetylgalactosaminidase deficiency: systematic review and meta-analysis. Hum Genet. 2020.
Medication Comparisons
Compare medications used to treat Alpha N Acetylgalactosaminidase Deficiency Type 3 C5437471. 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