ICD-10: E76.210

Morquio A syndrome, classified under the ICD-10 code E76.210, is a type of mucopolysaccharidosis (MPS) characterized by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. This condition leads to the accumulation of glycosaminoglycans (GAGs) in the body, resulting in various physical and developmental challenges. Below are alternative names and related terms associated with Morquio A syndrome.

Alternative Names for Morquio A Syndrome

1. Mucopolysaccharidosis Type IV A (MPS IV A): This is the formal name used in medical literature to describe Morquio A syndrome, emphasizing its classification within the mucopolysaccharidoses group.

2. N-acetylgalactosamine-6-sulfatase deficiency: This name highlights the specific enzyme deficiency that causes the disorder.

3. Morquio's syndrome: A common shorthand reference to Morquio A syndrome, often used interchangeably.

4. Galactosamine-6-sulfate sulfatase deficiency: Another technical term that describes the enzymatic deficiency involved in the condition.

5. MPS IV: A broader classification that includes both Morquio A and Morquio B syndromes, though Morquio B is caused by a different enzyme deficiency.

Related Terms

1. Mucopolysaccharidosis (MPS): This term refers to a group of inherited lysosomal storage disorders, including Morquio A, characterized by the accumulation of GAGs due to enzyme deficiencies.

2. Lysosomal storage disorders: A category of diseases that includes MPS, where harmful quantities of substances accumulate in the lysosomes due to enzyme deficiencies.

3. Glycosaminoglycans (GAGs): These are the complex carbohydrates that accumulate in the body due to the enzyme deficiency in Morquio A syndrome.

4. Skeletal dysplasia: A term that may be used in the context of Morquio A syndrome, as the condition often leads to skeletal abnormalities.

5. Enzyme replacement therapy (ERT): A treatment approach that may be relevant for patients with Morquio A syndrome, aimed at supplementing the deficient enzyme.

6. Clinical manifestations of MPS: This term encompasses the various symptoms and health issues associated with Morquio A syndrome, such as skeletal deformities, respiratory problems, and cardiac issues.

Conclusion

Understanding the alternative names and related terms for Morquio A syndrome is essential for accurate diagnosis, treatment, and communication among healthcare professionals. The terminology reflects both the biochemical basis of the disorder and its classification within the broader context of mucopolysaccharidoses. If you have further questions or need more specific information about Morquio A syndrome, feel free to ask!

The diagnosis of Morquio A syndrome, classified under ICD-10 code E76.210, involves a combination of clinical evaluation, biochemical testing, and genetic analysis. This rare genetic disorder is a type of mucopolysaccharidosis (MPS) caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs) in the body. Here’s a detailed overview of the criteria used for diagnosis:

Clinical Criteria

1. Symptoms and Signs:
   - Patients typically present with skeletal abnormalities, including short stature, kyphosis, and scoliosis.
   - Other common features include joint stiffness, corneal clouding, and dental anomalies.
   - Symptoms often manifest in early childhood, and parents may notice developmental delays or physical differences compared to peers.

2. Physical Examination:
   - A thorough physical examination may reveal characteristic features such as a barrel-shaped chest, hip dysplasia, and limb deformities.
   - The presence of a distinctive facial appearance, including a flat nasal bridge and prominent forehead, may also be noted.

Biochemical Testing

1. Urinary GAG Analysis:
   - A key diagnostic test involves measuring the levels of GAGs in the urine. Elevated levels of keratan sulfate are particularly indicative of Morquio A syndrome.
   - This test is often one of the first steps in the diagnostic process.

2. Enzyme Activity Assay:
   - Confirmatory testing involves measuring the activity of the enzyme N-acetylgalactosamine-6-sulfatase in leukocytes or fibroblasts.
   - A significantly reduced or absent enzyme activity confirms the diagnosis of Morquio A syndrome.

Genetic Testing

1. Molecular Genetic Testing:
   - Genetic testing can identify mutations in the GALNS gene, which is responsible for Morquio A syndrome.
   - This testing is particularly useful for confirming the diagnosis in cases where biochemical tests are inconclusive or for prenatal diagnosis.

Imaging Studies

1. Radiological Evaluation:
   - X-rays, MRI, or CT scans may be utilized to assess skeletal abnormalities and monitor the progression of the disease.
   - Imaging can help visualize joint and bone changes that are characteristic of Morquio A syndrome.

Differential Diagnosis

1. Exclusion of Other Conditions:
   - It is essential to differentiate Morquio A from other types of mucopolysaccharidoses and skeletal dysplasias.
   - A comprehensive evaluation of clinical features and laboratory findings is necessary to rule out similar disorders.

Conclusion

The diagnosis of Morquio A syndrome (ICD-10 code E76.210) is a multifaceted process that combines clinical assessment, biochemical tests, genetic analysis, and imaging studies. Early diagnosis is crucial for managing symptoms and improving the quality of life for affected individuals. If you suspect Morquio A syndrome, it is advisable to consult a healthcare professional specializing in genetic disorders or metabolic diseases for a comprehensive evaluation and appropriate testing.

Morquio A syndrome, classified under ICD-10 code E76.210, is a rare genetic disorder that falls within the category of mucopolysaccharidoses (MPS). This condition is characterized by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs) in various tissues. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with Morquio A syndrome.

Clinical Presentation

Age of Onset

Morquio A syndrome typically presents in early childhood, with symptoms often becoming noticeable between the ages of 2 and 4 years. However, the severity and specific manifestations can vary significantly among individuals.

Growth and Development

Children with Morquio A may exhibit normal early growth patterns, but they often experience a gradual decline in growth rates. By the age of 5, many children show signs of skeletal abnormalities and other systemic issues.

Signs and Symptoms

Skeletal Abnormalities

One of the hallmark features of Morquio A syndrome is skeletal dysplasia, which includes:
- Short stature: Individuals often have a height significantly below average for their age.
- Kyphoscoliosis: Abnormal curvature of the spine, which can lead to postural issues and discomfort.
- Genu valgum: Also known as "knock-knees," this condition is common in affected individuals.
- Hip dysplasia: Abnormal development of the hip joint, which can lead to pain and mobility issues.

Joint and Musculoskeletal Issues

Patients frequently experience:
- Joint stiffness: Limited range of motion in joints, particularly in the hips, knees, and elbows.
- Pain: Chronic pain in joints and muscles due to the accumulation of GAGs and associated inflammation.

Cardiovascular Manifestations

Some individuals may develop cardiovascular issues, including:
- Valvular heart disease: A common complication that can lead to heart murmurs and other cardiac symptoms.
- Aortic regurgitation: A condition where the heart's aortic valve does not close properly, leading to potential heart failure.

Respiratory Complications

Respiratory issues are prevalent due to:
- Airway obstruction: Enlarged tonsils and adenoids can lead to obstructive sleep apnea.
- Pulmonary hypertension: Increased blood pressure in the lungs can occur, leading to further complications.

Neurological Features

While Morquio A syndrome is primarily a skeletal disorder, some patients may experience:
- Cognitive function: Most individuals have normal intelligence, but some may exhibit learning difficulties due to physical limitations.

Other Manifestations

• Hearing loss: Conductive hearing loss is common due to ear infections and structural abnormalities.
• Corneal clouding: Accumulation of GAGs can lead to opacities in the cornea, affecting vision.

Patient Characteristics

Genetic Background

Morquio A syndrome is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for a child to be affected. The condition is caused by mutations in the GALNS gene, which encodes the enzyme N-acetylgalactosamine-6-sulfatase.

Demographics

Morquio A syndrome affects individuals of all ethnic backgrounds, but the prevalence may vary. It is estimated to occur in approximately 1 in 200,000 to 1 in 300,000 live births.

Quality of Life

Patients often face significant challenges related to mobility, chronic pain, and the need for ongoing medical care, which can impact their overall quality of life. Early diagnosis and intervention are crucial for managing symptoms and improving outcomes.

Conclusion

Morquio A syndrome (ICD-10 code E76.210) presents a complex array of clinical features primarily affecting the skeletal system, with significant implications for joint health, cardiovascular function, and overall quality of life. Early recognition and multidisciplinary management are essential to address the various manifestations of this condition and to support affected individuals and their families. Regular follow-up with healthcare providers specializing in genetic disorders, orthopedics, and cardiology is recommended to optimize care and improve patient outcomes.

Morquio A syndrome, classified under ICD-10 code E76.210, is a type of mucopolysaccharidosis (MPS) characterized by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various tissues, resulting in a range of clinical manifestations including skeletal abnormalities, joint problems, and potential cardiovascular issues. The management of Morquio A syndrome typically involves a combination of supportive care and specific therapies aimed at addressing the underlying enzyme deficiency.

Standard Treatment Approaches

1. Enzyme Replacement Therapy (ERT)

One of the primary treatment modalities for Morquio A syndrome is enzyme replacement therapy (ERT). The FDA-approved treatment for this condition is Vimizim (elosulfase alfa), which is a recombinant form of the enzyme N-acetylgalactosamine-6-sulfatase. Vimizim is administered via intravenous infusion and aims to reduce the accumulation of GAGs in the body, thereby alleviating some of the symptoms associated with the disorder. Clinical studies have shown that ERT can improve walking ability, reduce fatigue, and enhance overall quality of life for patients with Morquio A syndrome[1][2].

2. Supportive Care

Supportive care is crucial in managing the symptoms and complications associated with Morquio A syndrome. This may include:

• Physical Therapy: To improve mobility, strengthen muscles, and enhance joint function. Tailored exercise programs can help manage musculoskeletal issues and improve overall physical health[3].
• Occupational Therapy: To assist patients in performing daily activities and adapting to physical limitations. This can include the use of assistive devices to enhance independence[4].
• Surgical Interventions: In some cases, orthopedic surgeries may be necessary to correct skeletal deformities or to relieve pressure on the spinal cord and nerves. Common procedures include spinal stabilization and hip replacement surgeries[5].

3. Monitoring and Management of Complications

Patients with Morquio A syndrome are at risk for various complications, including respiratory issues, cardiac problems, and hearing loss. Regular monitoring by a multidisciplinary team is essential to address these potential complications. This may involve:

• Cardiology Consultations: To monitor heart function and manage any cardiovascular issues that may arise[6].
• Audiology Services: To assess and manage hearing loss, which is common in individuals with MPS disorders[7].
• Regular Imaging Studies: Such as X-rays or MRIs to monitor skeletal health and detect any changes that may require intervention[8].

4. Genetic Counseling

Given that Morquio A syndrome is an inherited disorder, genetic counseling is recommended for affected individuals and their families. This can provide valuable information regarding the inheritance patterns, risks for future pregnancies, and available testing options for family members[9].

Conclusion

The management of Morquio A syndrome (ICD-10 code E76.210) involves a comprehensive approach that includes enzyme replacement therapy, supportive care, and regular monitoring for complications. While ERT with Vimizim has shown promise in improving patient outcomes, ongoing supportive therapies and interventions are essential to enhance the quality of life for individuals affected by this condition. As research continues, new therapies and management strategies may emerge, offering hope for improved care in the future.

Clinical Description of Morquio A Mucopolysaccharidosis (ICD-10 Code E76.210)

Overview of Morquio A Syndrome

Morquio A syndrome, classified under ICD-10 code E76.210, is a rare genetic disorder that falls within the category of mucopolysaccharidoses (MPS). It is primarily caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS), which is essential for the breakdown of glycosaminoglycans (GAGs), specifically keratan sulfate and chondroitin sulfate. The accumulation of these substances leads to various systemic complications and clinical manifestations.

Genetic Basis

Morquio A syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to manifest the disease. The GALNS gene is located on chromosome 16, and mutations in this gene disrupt the normal enzymatic activity, resulting in the accumulation of GAGs in various tissues and organs[1].

Clinical Features

The clinical presentation of Morquio A syndrome can vary significantly among individuals, but common features include:

• Skeletal Abnormalities: Patients often exhibit skeletal dysplasia, characterized by short stature, kyphosis, scoliosis, and joint hypermobility. The vertebrae and long bones may be particularly affected, leading to a distinctive skeletal appearance[2].

• Cardiovascular Issues: Some patients may develop heart problems, including valvular heart disease, which can lead to significant morbidity[3].

• Respiratory Complications: Due to skeletal deformities, respiratory function may be compromised, leading to obstructive sleep apnea and other respiratory issues[4].

• Ocular Manifestations: Corneal clouding is a common finding, which can affect vision. Other ocular issues may include retinal degeneration[5].

• Neurological Impact: Unlike some other forms of mucopolysaccharidoses, Morquio A syndrome typically does not lead to significant cognitive impairment. However, some patients may experience mild developmental delays[6].

• Other Symptoms: Patients may also present with hearing loss, dental abnormalities, and a characteristic facial appearance, including a flat nasal bridge and enlarged head[7].

Diagnosis

Diagnosis of Morquio A syndrome is typically confirmed through biochemical testing that measures the activity of the GALNS enzyme in leukocytes or fibroblasts. Genetic testing can also be performed to identify mutations in the GALNS gene. Imaging studies, such as X-rays or MRIs, may be utilized to assess skeletal abnormalities and other complications associated with the disease[8].

Management and Treatment

Currently, there is no cure for Morquio A syndrome, but management focuses on alleviating symptoms and improving quality of life. Treatment options may include:

• Enzyme Replacement Therapy (ERT): Elosulfase alfa (Vimizim) is an approved ERT that helps to reduce the accumulation of GAGs in patients with Morquio A syndrome. This therapy has been shown to improve walking ability and overall physical function[9].

• Supportive Care: This may involve physical therapy, orthopedic interventions, and regular monitoring for cardiac and respiratory complications. Surgical interventions may be necessary for severe skeletal deformities or other complications[10].

• Multidisciplinary Approach: Management often requires a team of specialists, including geneticists, orthopedists, cardiologists, and physical therapists, to address the various aspects of the disease effectively[11].

Conclusion

Morquio A syndrome (ICD-10 code E76.210) is a complex condition that requires comprehensive management strategies to address its multifaceted clinical manifestations. Early diagnosis and intervention are crucial for improving outcomes and enhancing the quality of life for affected individuals. Ongoing research into gene therapy and other innovative treatments holds promise for future advancements in the management of this rare disorder.

References
[1] ICD-10 International statistical classification of diseases.
[2] Billing and Coding: Cardiac Catheterization and Coronary.
[3] Medical Policy - MMM-pr.com.
[4] Prior Authorization Policy: Vimizim (elosulfase alfa).
[5] SNOMED CT - Morquio syndrome - Classes.
[6] ICD-10-CM TABULAR LIST of DISEASES and INJURIES.
[7] Coverage Authorization Guide.
[8] 10 ICD-10 Description CMS Eligible Condition.
[9] ICD-10 International statistical classification of diseases.
[10] Coverage Authorization Guide.
[11] Medical Policy - MMM-pr.com.