Deficiency Of N Acetylglucosamine 1 Phosphotransferase C0020725
This enzyme deficiency, linked to I-cell disease, prevents proper tagging of enzymes for delivery to lysosomes, leading to toxic accumulation. It causes severe developmental delay, skeletal abnormalities, and typically presents in early childhood. Care focuses on supportive management of 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
Severe growth retardation
Corneal clouding
Coarse facial features
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Musculoskeletal Management Program
Comprehensive physical therapy focusing on maintaining joint range of motion, preventing contractures, and supporting mobility through customized exercise programs and positioning strategies.
Multisystem Surveillance Protocol
Regular monitoring of cardiac, respiratory, and skeletal systems including echocardiograms, pulmonary function tests, and orthopedic assessments to detect and manage complications early.
Additional treatment options
Orthopedic Intervention
Surgical management of skeletal abnormalities including joint contractures, spinal deformities, or hip dysplasia when conservative measures fail to provide adequate function or pain relief.
surgicalNutritional Support and Feeding Management
Assessment and management of nutritional status including possible need for modified textures, feeding assistance, or supplementation to maintain adequate nutrition and prevent aspiration.
dietaryPain Management Support
Multimodal approach to managing chronic pain associated with musculoskeletal deformities using both pharmacological and non-pharmacological techniques including massage, heat therapy, and relaxation training.
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 Deficiency Of N Acetylglucosamine 1 Phosphotransferase C0020725?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Deficiency Of N Acetylglucosamine 1 Phosphotransferase C0020725. 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 25, 2026. · Read our editorial policy