E76.1
Mucopolysaccharidosis, type II
Clinical Classification Guidelines
Inclusion Terms
- Hunter's syndrome
Medical Intelligence & Overview
Mucopolysaccharidosis type II, commonly known as Hunter's syndrome, is a rare genetic disorder that affects many parts of the body. It is classified under ICD-10 code E76.1. This condition is caused by a deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of complex sugars called glycosaminoglycans (GAGs) in cells. The buildup results in progressive physical and developmental problems, varying in severity among individuals. Hunter's syndrome is inherited in an X-linked pattern, primarily affecting males.
Causes & Symptoms
Clinical Causes: Genetic mutation in the IDS gene on the X chromosome Inherited in an X-linked recessive manner, primarily affecting males Lack or deficiency of the enzyme iduronate-2-sulfatase Accumulation of glycosaminoglycans in various tissues and organs
Key Symptoms: Distinct facial features such as a prominent forehead and flat nasal bridge Joint stiffness and limited mobility Hearing loss and frequent respiratory infections Hepatosplenomegaly (enlarged liver and spleen) Short stature and skeletal abnormalities (dysostosis multiplex) Skin abnormalities like thickened skin Cardiac issues including valve problems Developmental delays and cognitive impairment in severe cases
Diagnostic & Treatment
Diagnosis Path: Diagnosis involves a combination of clinical evaluation and laboratory testing. Key steps include:
Treatment Protocols: While there is no cure for Hunter's syndrome, treatment aims to manage symptoms and improve quality of life. Options include:
Clinical Advice & FAQs
Billing Guidance
Is E76.1 a billable ICD-10 code?
Yes, E76.1 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E76.1?
Clinical documentation must specify the nature of Mucopolysaccharidosis, type II and any associated comorbidities for accurate reporting.
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