E76.210
Morquio A mucopolysaccharidoses
Clinical Classification Guidelines
Inclusion Terms
- Classic Morquio syndrome
- Morquio syndrome A
- Mucopolysaccharidosis, type IVA
Medical Intelligence & Overview
Morquio A, also known as Mucopolysaccharidosis type IVA, is a rare genetic disorder affecting how the body breaks down certain long chains of sugar molecules called glycosaminoglycans. This condition leads to the buildup of these substances in various tissues and organs, causing a range of health problems. It is part of a group known as mucopolysaccharidoses, which can impact bones, joints, and other body systems. Early diagnosis and management are essential to improve quality of life for those affected.
Causes & Symptoms
Clinical Causes: Morquio A is caused by a deficiency of an enzyme called N-acetylgalactosamine-6-sulfatase. This enzyme deficiency results from mutations in the GALNS gene involved in the production of the enzyme. It is inherited in an autosomal recessive manner, meaning a person needs to inherit two copies of the mutated gene (one from each parent) to develop the disorder.
Key Symptoms: Short stature and abnormal bone development Joint problems leading to stiffness and limited movement Kyphosis, or a rounded back Dental abnormalities such as misaligned teeth Corneal clouding affecting vision Heart issues including valve problems Respiratory difficulties due to airway obstructions Hearing loss Hepatosplenomegaly (enlarged liver and spleen)
Diagnostic & Treatment
Diagnosis Path: Urinary tests to detect elevated levels of glycosaminoglycans Enzyme activity assays to measure N-acetylgalactosamine-6-sulfatase levels Genetic testing to identify mutations in the GALNS gene Imaging studies such as X-rays to observe bone abnormalities Comprehensive clinical evaluation to assess physical features and organ functions
Treatment Protocols: Enzyme replacement therapy to supply the missing enzyme Surgical interventions to correct skeletal abnormalities and relieve symptoms Physical therapy to maintain joint flexibility and mobility Regular monitoring of heart, respiratory, and hearing functions Supportive care including vision correction and dental treatment
Clinical Advice & FAQs
Billing Guidance
Is E76.210 a billable ICD-10 code?
Yes, E76.210 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E76.210?
Clinical documentation must specify the nature of Morquio A mucopolysaccharidoses and any associated comorbidities for accurate reporting.
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