ICD-10: E79

Disorders of purine and pyrimidine metabolism, classified under ICD-10 code E79, encompass a range of metabolic conditions that affect the body's ability to process purines and pyrimidines—essential components of nucleic acids (DNA and RNA) and energy-carrying molecules like ATP. These disorders can lead to various clinical manifestations, depending on the specific metabolic pathway affected.

Overview of Purine and Pyrimidine Metabolism

Purines and Pyrimidines

• Purines include adenine and guanine, while pyrimidines consist of cytosine, thymine, and uracil.
• These molecules are vital for numerous biological functions, including the synthesis of nucleotides, which are the building blocks of DNA and RNA, and the production of energy through ATP.

Metabolic Pathways

• The metabolism of purines and pyrimidines involves complex biochemical pathways that convert these compounds into various metabolites. Disruptions in these pathways can lead to an accumulation of toxic metabolites or a deficiency in essential nucleotides.

Clinical Manifestations

Symptoms

The clinical presentation of disorders related to purine and pyrimidine metabolism can vary widely but may include:
- Neurological symptoms: Such as developmental delays, seizures, or cognitive impairments.
- Gastrointestinal issues: Including vomiting, diarrhea, or failure to thrive in infants.
- Immunological problems: Increased susceptibility to infections due to impaired immune function.
- Metabolic crises: Such as hyperuricemia, which can lead to gout or kidney stones in purine metabolism disorders.

Specific Disorders

Some notable disorders under this classification include:
- Adenine phosphoribosyltransferase deficiency (APRT deficiency): Leads to the accumulation of 2,8-dihydroxyadenine, causing kidney stones.
- Xanthinuria: A rare disorder characterized by the deficiency of xanthine oxidase, leading to the accumulation of xanthine and increased risk of kidney stones.
- Lesch-Nyhan syndrome: A genetic disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), leading to severe neurological symptoms and self-injurious behavior.

Diagnosis and Management

Diagnostic Approaches

Diagnosis typically involves:
- Clinical evaluation: Assessment of symptoms and family history.
- Biochemical tests: Measurement of metabolites in blood and urine to identify specific enzyme deficiencies.
- Genetic testing: To confirm diagnoses of hereditary disorders.

Treatment Options

Management strategies may include:
- Dietary modifications: Reducing purine intake in cases like gout.
- Medications: Such as allopurinol for hyperuricemia or uricosuric agents to promote uric acid excretion.
- Supportive care: Addressing specific symptoms and complications, including nutritional support and management of infections.

Conclusion

Disorders of purine and pyrimidine metabolism (ICD-10 code E79) represent a diverse group of metabolic conditions with significant clinical implications. Early diagnosis and appropriate management are crucial for improving patient outcomes and quality of life. Understanding the underlying metabolic pathways and their associated disorders can aid healthcare professionals in providing targeted care and support for affected individuals.

The ICD-10 code E79 pertains to disorders of purine and pyrimidine metabolism, which are metabolic conditions that can lead to various clinical presentations. Understanding the clinical features, signs, symptoms, and patient characteristics associated with these disorders is crucial for diagnosis and management.

Overview of Purine and Pyrimidine Metabolism Disorders

Purine and pyrimidine metabolism disorders involve the abnormal synthesis, breakdown, or utilization of purines (adenine and guanine) and pyrimidines (cytosine, thymine, and uracil). These disorders can lead to a range of health issues, including gout, kidney stones, and neurological problems, depending on the specific metabolic pathway affected.

Clinical Presentation

Common Disorders Under E79

1. Hyperuricemia: Elevated levels of uric acid in the blood, which can lead to gout.
2. Adenine Phosphoribosyltransferase Deficiency: A rare genetic disorder that can cause neurological symptoms and immune dysfunction.
3. Xanthinuria: A condition characterized by the accumulation of xanthine due to a deficiency in the enzyme xanthine oxidase, leading to kidney stones.

Signs and Symptoms

The clinical manifestations of disorders under ICD-10 code E79 can vary widely but often include:

• Joint Pain and Swelling: Particularly in the case of gout, patients may experience acute attacks of pain, redness, and swelling in the joints, especially the big toe.
• Kidney Stones: Patients may present with flank pain, hematuria (blood in urine), and urinary obstruction due to the formation of uric acid or xanthine stones.
• Neurological Symptoms: In cases like adenine phosphoribosyltransferase deficiency, symptoms may include developmental delays, seizures, and other cognitive impairments.
• Recurrent Infections: Some patients may experience increased susceptibility to infections due to immune system dysfunction.

Patient Characteristics

Patients with disorders of purine and pyrimidine metabolism may exhibit specific characteristics:

• Age: These disorders can present at various ages, but some, like gout, are more common in middle-aged and older adults.
• Gender: Gout is more prevalent in males than females, particularly in the age group of 30-50 years.
• Family History: Many of these disorders have a genetic component, so a family history of similar metabolic disorders may be present.
• Lifestyle Factors: Diets high in purines (e.g., red meat, seafood) can exacerbate conditions like gout, while hydration status can influence the risk of kidney stones.

Conclusion

Disorders of purine and pyrimidine metabolism, classified under ICD-10 code E79, encompass a range of clinical presentations, signs, and symptoms that can significantly impact patient health. Recognizing these features is essential for timely diagnosis and effective management. Clinicians should consider patient characteristics, including age, gender, and family history, when evaluating individuals for these metabolic disorders. Early intervention can help mitigate complications and improve quality of life for affected patients.

The ICD-10 code E79 pertains to "Disorders of purine and pyrimidine metabolism," which encompasses a range of metabolic disorders related to the breakdown and synthesis of purines and pyrimidines, essential components of nucleic acids. Below are alternative names and related terms associated with this classification.

Alternative Names

1. Purine Metabolism Disorders: This term specifically refers to disorders affecting the metabolism of purines, which include adenine and guanine.

2. Pyrimidine Metabolism Disorders: Similar to purine disorders, this term focuses on the metabolism of pyrimidines, such as cytosine, thymine, and uracil.

3. Nucleotide Metabolism Disorders: This broader term encompasses disorders affecting the metabolism of both purines and pyrimidines, as nucleotides are the building blocks of nucleic acids.

4. Adenine and Guanine Disorders: These terms can be used to specify disorders related to the metabolism of adenine and guanine, which are specific purines.

5. Uric Acid Disorders: Since some purine metabolism disorders can lead to elevated uric acid levels, this term is sometimes used in a related context, particularly in conditions like gout.

Related Terms

1. Hyperuricemia: A condition characterized by high levels of uric acid in the blood, often associated with purine metabolism disorders.

2. Gout: A type of inflammatory arthritis that can result from the accumulation of uric acid crystals, often linked to purine metabolism issues.

3. Lesch-Nyhan Syndrome: A specific genetic disorder caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), leading to abnormal purine metabolism.

4. Adenosine Deaminase Deficiency: A rare genetic disorder affecting purine metabolism, leading to immunodeficiency.

5. Orotic Aciduria: A condition resulting from a defect in pyrimidine metabolism, characterized by the excessive excretion of orotic acid.

6. Xanthinuria: A rare disorder of purine metabolism characterized by the accumulation of xanthine due to a deficiency in the enzyme xanthine oxidase.

Conclusion

Understanding the alternative names and related terms for ICD-10 code E79 is crucial for healthcare professionals when diagnosing and treating disorders of purine and pyrimidine metabolism. These terms not only aid in accurate coding but also enhance communication among medical practitioners regarding specific metabolic conditions. If you need further details on specific disorders or their implications, feel free to ask!

The ICD-10 code E79 pertains to disorders of purine and pyrimidine metabolism, which are metabolic conditions that affect the body's ability to process these essential compounds. Diagnosing these disorders typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Below is a detailed overview of the criteria and methods used for diagnosis.

Clinical Evaluation

Patient History

• Symptom Assessment: A thorough history of symptoms is crucial. Patients may present with a variety of symptoms depending on the specific disorder, including joint pain (gout), neurological issues, or developmental delays.
• Family History: A detailed family history can help identify hereditary patterns, as many purine and pyrimidine metabolism disorders are genetic.

Physical Examination

• Clinical Signs: Physical examination may reveal signs such as joint swelling, neurological deficits, or other systemic manifestations that can guide further testing.

Biochemical Testing

Blood and Urine Tests

• Metabolite Levels: Blood and urine tests are essential for measuring levels of purines, pyrimidines, and their metabolites. For example, elevated uric acid levels may indicate a disorder related to purine metabolism, such as gout or hyperuricemia[1].
• Enzyme Activity: Specific enzyme assays can be performed to assess the activity of enzymes involved in purine and pyrimidine metabolism. Deficiencies in these enzymes can confirm a diagnosis.

Genetic Testing

• Molecular Analysis: Genetic testing can identify mutations in genes associated with purine and pyrimidine metabolism disorders. This is particularly useful for confirming diagnoses when biochemical tests are inconclusive[2].

Diagnostic Criteria

Specific Disorders

• Hyperuricemia (E79.0): Characterized by elevated uric acid levels, often leading to gout. Diagnosis may involve measuring serum uric acid levels and assessing for clinical symptoms of gout[3].
• Disorders of Purine Metabolism (E79.1): Includes conditions like adenine phosphoribosyltransferase deficiency, which can be diagnosed through specific enzyme assays and genetic testing.
• Disorders of Pyrimidine Metabolism (E79.2): Conditions such as orotic aciduria can be diagnosed by measuring orotic acid levels in urine and confirming through genetic testing.

Conclusion

The diagnosis of disorders of purine and pyrimidine metabolism under ICD-10 code E79 involves a multifaceted approach that includes clinical evaluation, biochemical testing, and genetic analysis. Accurate diagnosis is essential for effective management and treatment of these metabolic disorders. If you suspect a disorder related to purine or pyrimidine metabolism, consulting a healthcare professional for appropriate testing and evaluation is crucial.

References

1. ICD-10-CM Diagnosis Code E79.0 - Hyperuricemia without [3].
2. ICD-10-CM Diagnosis Code E79.1 - Disorders of purine metabolism [2].
3. ICD-10-CM Diagnosis Code E79.2 - Disorders of pyrimidine metabolism [1].

Disorders of purine and pyrimidine metabolism, classified under ICD-10 code E79, encompass a range of metabolic conditions that can lead to various health issues, including gout, kidney stones, and neurological disorders. The treatment approaches for these disorders are multifaceted and depend on the specific condition, its severity, and the individual patient's needs. Below is a detailed overview of standard treatment strategies for these disorders.

Overview of Disorders of Purine and Pyrimidine Metabolism

Purine and pyrimidine metabolism disorders involve abnormalities in the synthesis and breakdown of nucleotides, which are essential for DNA and RNA synthesis. Common conditions under this classification include:

• Gout: A form of arthritis characterized by elevated uric acid levels.
• Adenine Phosphoribosyltransferase Deficiency: A rare genetic disorder leading to neurological symptoms.
• Lesch-Nyhan Syndrome: A genetic disorder associated with severe neurological impairment and self-injurious behavior.

Standard Treatment Approaches

1. Dietary Management

Diet plays a crucial role in managing disorders related to purine metabolism, particularly gout. Patients are often advised to:

• Limit Purine Intake: Foods high in purines, such as red meat, organ meats, and certain seafood, should be reduced.
• Increase Hydration: Adequate fluid intake helps dilute uric acid and promotes its excretion.
• Avoid Alcohol: Alcohol, especially beer, can increase uric acid levels and should be limited or avoided.

2. Medications

Medications are often necessary to manage symptoms and prevent complications:

• Urate-Lowering Therapy: For gout, medications such as allopurinol or febuxostat are commonly prescribed to lower uric acid levels in the blood. These medications help prevent gout attacks and complications associated with chronic hyperuricemia[1].
• Anti-inflammatory Drugs: Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids may be used to manage acute gout attacks by reducing inflammation and pain[2].
• Colchicine: This medication can also be effective in treating acute gout flares and may be used for prophylaxis in patients with recurrent attacks[3].

3. Genetic Counseling and Support

For inherited disorders like Lesch-Nyhan syndrome, genetic counseling is essential. Families may benefit from understanding the genetic basis of the disorder, potential risks for future children, and available support resources.

4. Symptomatic Treatment

Patients with neurological symptoms due to purine metabolism disorders may require symptomatic treatment, which can include:

• Physical Therapy: To improve mobility and function.
• Psychiatric Support: For behavioral issues associated with conditions like Lesch-Nyhan syndrome, psychiatric evaluation and intervention may be necessary[4].

5. Monitoring and Follow-Up

Regular monitoring of uric acid levels and kidney function is crucial for patients with gout and other purine metabolism disorders. This helps in adjusting treatment plans and preventing complications such as kidney stones or chronic kidney disease.

Conclusion

The management of disorders of purine and pyrimidine metabolism, as classified under ICD-10 code E79, requires a comprehensive approach that includes dietary modifications, pharmacological interventions, genetic counseling, and ongoing monitoring. By tailoring treatment to the specific disorder and individual patient needs, healthcare providers can effectively manage symptoms and improve the quality of life for affected individuals. Regular follow-up and patient education are key components in ensuring successful long-term management of these metabolic disorders.

References

1. ICD-10 International statistical classification of diseases and related health problems.
2. Hospital Length of Stay and Associated Factors in Patients with Gout.
3. ICD-10-CM Code for Disorders of purine and pyrimidine metabolism E79.
4. ICD-10 GUIDE FOR MENTAL RETARDATION.