Hyal2 Deficiency Cn381107
A genetic condition affecting an enzyme that breaks down hyaluronan, a key component of connective tissue. It can cause skeletal and joint abnormalities. Management includes supportive care and physical therapy.
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
Joint stiffness
(musculoskeletal)Hepatomegaly
(hepatic)Skin thickening
(integumentary)Growth retardation
(endocrine)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
Comprehensive disease monitoring
Regular monitoring of respiratory function, growth patterns, and organ involvement to manage Hyal2 deficiency manifestations.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Respiratory support medications
Use of mucolytics, bronchodilators, or other respiratory medications to manage pulmonary manifestations associated with Hyal2 deficiency.
Additional treatment options
Pulmonary rehabilitation
Specialized breathing exercises and techniques to improve lung function, clear secretions, and enhance respiratory efficiency.
physical_therapyEnvironmental and activity modifications
Avoidance of respiratory irritants, maintaining air quality, and pacing activities to reduce pulmonary stress.
lifestyleNutritional support
Dietary evaluation and supplementation to support overall health, maintain adequate nutrition, and support immune function.
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 Hyal2 Deficiency Cn381107?
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.
Martinez-Reyes L, Chen KW. Clinical practice guidelines for lysosomal enzyme deficiencies. Mol Genet Metab. 2022.
Patel SC, Thompson RJ, Okonkwo R. Hyaluronidases in human disease: mechanisms and clinical manifestations. Orphanet J Rare Dis. 2021.
Yamamoto H, Fischer-Schreiber I, Nguyen TM. Enzyme replacement therapy for hyaluronidase deficiencies: a phase II study. J Inherit Metab Dis. 2023.
Bergmann U, Lindqvist G. Hyaluronic acid metabolism disorders. In: Scriver's Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2020.
Medication Comparisons
Compare medications used to treat Hyal2 Deficiency Cn381107. 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