ICD-10: E72.22

Arginosuccinic aciduria, classified under ICD-10 code E72.22, is a rare genetic disorder that affects the body's ability to process certain proteins. This condition is part of a group of disorders known as urea cycle disorders, which are characterized by a deficiency in one of the enzymes responsible for the urea cycle, specifically argininosuccinate lyase.

Clinical Description

Pathophysiology

Arginosuccinic aciduria results from a deficiency of the enzyme argininosuccinate lyase, which is crucial for the conversion of argininosuccinic acid into arginine and fumarate in the urea cycle. This deficiency leads to the accumulation of argininosuccinic acid and other toxic metabolites in the body, which can cause various health issues, particularly affecting the nervous system and liver function[1][2].

Symptoms

The symptoms of arginosuccinic aciduria can vary widely among individuals but often include:

• Neurological Symptoms: These may include developmental delays, intellectual disability, seizures, and behavioral problems due to the accumulation of toxic substances in the brain.
• Physical Symptoms: Patients may present with failure to thrive, vomiting, lethargy, and irritability, especially during metabolic crises triggered by illness or stress.
• Metabolic Crises: These episodes can lead to severe complications, including hyperammonemia (elevated ammonia levels in the blood), which can be life-threatening if not treated promptly[3][4].

Diagnosis

Diagnosis of arginosuccinic aciduria typically involves:

• Newborn Screening: Many cases are identified through routine newborn screening tests that measure levels of amino acids in the blood.
• Biochemical Testing: Confirmatory tests may include measuring the levels of argininosuccinic acid and other metabolites in urine and plasma.
• Genetic Testing: Identifying mutations in the ASL gene, which encodes the argininosuccinate lyase enzyme, can confirm the diagnosis[5][6].

Management and Treatment

Management of arginosuccinic aciduria focuses on reducing the levels of toxic metabolites and preventing metabolic crises. Treatment strategies may include:

• Dietary Management: A low-protein diet may be recommended to limit the intake of amino acids that contribute to ammonia production.
• Medications: Certain medications, such as ammonia scavengers (e.g., sodium benzoate or phenylbutyrate), can help reduce ammonia levels in the blood.
• Liver Transplantation: In severe cases, liver transplantation may be considered as a potential curative treatment, as it can restore normal enzyme function[7][8].

Prognosis

The prognosis for individuals with arginosuccinic aciduria varies depending on the severity of the enzyme deficiency and the timeliness of treatment. Early diagnosis and intervention can significantly improve outcomes, reducing the risk of neurological damage and enhancing quality of life[9].

In summary, arginosuccinic aciduria is a serious metabolic disorder that requires careful management and monitoring. Awareness of the condition and its symptoms is crucial for timely diagnosis and treatment, ultimately improving the prognosis for affected individuals.

References

1. ICD-10-CM Diagnosis Code E72.22 - Arginosuccinic aciduria - ICD List.
2. E72.22 Arginosuccinic aciduria - ICD-10-CM Diagnosis Codes - Find-A-Code.
3. ICD-10-CM Code for Arginosuccinic aciduria E72.22 - AAPC.
4. Newborn Screening Codes - J. Lister Hill.
5. ICD-10 (2024) Code: E7222 (Diagnosis) - HIPAASpace.
6. SNOMED CT - Argininosuccinate lyase deficiency - Classes.
7. Medical Policy.
8. ICD-10 International statistical classification of diseases.
9. 2025 ICD-10-CM Diagnosis Code E72.22: Arginosuccinic aciduria.

Argininosuccinic aciduria (ASA) is a rare genetic disorder that affects the body's ability to process certain proteins. It is classified under the ICD-10 code E72.22. Understanding its clinical presentation, signs, symptoms, and patient characteristics is crucial for diagnosis and management.

Clinical Presentation

Argininosuccinic aciduria is primarily characterized by a deficiency in the enzyme argininosuccinate lyase, which is essential for the urea cycle. This deficiency leads to the accumulation of argininosuccinic acid and other toxic metabolites in the body, resulting in various clinical manifestations.

Signs and Symptoms

The symptoms of argininosuccinic aciduria can vary widely among individuals, but common signs include:

• Hyperammonemia: Elevated levels of ammonia in the blood, which can lead to neurological symptoms such as lethargy, confusion, and in severe cases, coma[1][2].
• Neurological Symptoms: Patients may experience developmental delays, intellectual disability, seizures, and behavioral issues due to the toxic effects of ammonia on the brain[3][4].
• Failure to Thrive: Infants may present with poor growth and feeding difficulties, often due to metabolic crises triggered by illness or dietary protein intake[5].
• Liver Dysfunction: Some patients may exhibit signs of liver dysfunction, including hepatomegaly (enlarged liver) and elevated liver enzymes[6].
• Crisis Episodes: Patients may experience acute metabolic crises characterized by vomiting, irritability, and altered consciousness, often requiring emergency medical intervention[7].

Patient Characteristics

Argininosuccinic aciduria is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for a child to be affected. Key patient characteristics include:

• Age of Onset: Symptoms often present in infancy or early childhood, although some cases may be diagnosed later in life[8].
• Family History: A family history of urea cycle disorders may be present, as ASA is part of a group of metabolic disorders affecting the urea cycle[9].
• Ethnic Background: While argininosuccinic aciduria can occur in any ethnic group, certain populations may have a higher prevalence due to genetic factors[10].

Conclusion

Argininosuccinic aciduria is a serious metabolic disorder that requires early diagnosis and management to prevent severe complications. Awareness of its clinical presentation, signs, symptoms, and patient characteristics is essential for healthcare providers. Early intervention, including dietary management and possible ammonia scavenger therapy, can significantly improve outcomes for affected individuals. Regular monitoring and supportive care are also critical in managing this condition effectively.

Arginosuccinic aciduria, classified under ICD-10 code E72.22, is a rare genetic disorder that affects the metabolism of amino acids, specifically involving the urea cycle. This condition is characterized by the accumulation of argininosuccinic acid in the body due to a deficiency in the enzyme argininosuccinate lyase. Below are alternative names and related terms associated with this condition.

Alternative Names

1. Argininosuccinic acidemia: This term is often used interchangeably with arginosuccinic aciduria, although it may refer more broadly to the condition involving elevated levels of argininosuccinic acid in the blood.
2. Argininosuccinate lyase deficiency: This name highlights the specific enzyme deficiency that leads to the disorder.
3. ASL deficiency: An abbreviation for argininosuccinate lyase deficiency, commonly used in medical literature and discussions.

Related Terms

1. Urea cycle disorders: Arginosuccinic aciduria is classified as a urea cycle disorder, which encompasses a group of genetic conditions that impair the body's ability to remove ammonia from the bloodstream.
2. Amino acid metabolism disorders: This broader category includes various metabolic disorders affecting amino acid processing, of which arginosuccinic aciduria is a specific example.
3. Hyperammonemia: A potential complication of arginosuccinic aciduria, characterized by elevated ammonia levels in the blood, which can lead to serious health issues.
4. Newborn screening: Arginosuccinic aciduria is often included in newborn screening programs to facilitate early diagnosis and management of the condition.

Conclusion

Understanding the alternative names and related terms for ICD-10 code E72.22 is crucial for healthcare professionals, researchers, and patients alike. These terms not only aid in accurate diagnosis and treatment but also enhance communication within the medical community regarding this rare metabolic disorder. If you have further questions or need more specific information, feel free to ask!

Argininosuccinic aciduria (ASA) is a rare inherited metabolic disorder characterized by the body's inability to properly break down certain proteins due to a deficiency in the enzyme argininosuccinate lyase. This condition is classified under the ICD-10 code E72.22. The diagnosis of argininosuccinic aciduria involves several criteria, which can be categorized into clinical, biochemical, and genetic evaluations.

Clinical Criteria

1. Symptoms: Patients may present with a variety of symptoms, including:
   - Neurological issues such as seizures or developmental delays.
   - Episodes of hyperammonemia, which can lead to lethargy, vomiting, and irritability.
   - Failure to thrive in infants.
   - Possible liver dysfunction or signs of metabolic crisis.

2. Family History: A family history of metabolic disorders can be a significant indicator, as argininosuccinic aciduria is inherited in an autosomal recessive pattern.

Biochemical Criteria

1. Plasma Amino Acid Analysis: Diagnosis typically involves measuring amino acid levels in the blood. In argininosuccinic aciduria, there is an accumulation of:
   - Argininosuccinate
   - Citrulline
   - Low levels of arginine

2. Urine Organic Acid Analysis: The presence of elevated levels of argininosuccinic acid in urine can further support the diagnosis.

3. Newborn Screening: Many states include argininosuccinic aciduria in their newborn screening programs, which can detect elevated levels of citrulline and argininosuccinate shortly after birth.

Genetic Testing

1. Molecular Genetic Testing: Confirmation of the diagnosis can be achieved through genetic testing to identify mutations in the ASL gene, which encodes the enzyme argininosuccinate lyase. Identifying pathogenic variants in this gene is crucial for a definitive diagnosis.

Diagnostic Codes

The ICD-10 code E72.22 specifically refers to argininosuccinic aciduria, and it is essential for healthcare providers to document the diagnosis accurately for treatment and management purposes. This code falls under the broader category of disorders of amino acid metabolism.

Conclusion

Diagnosing argininosuccinic aciduria involves a comprehensive approach that includes clinical evaluation, biochemical testing, and genetic analysis. Early diagnosis is critical for managing the condition effectively, as it can help prevent severe complications associated with metabolic crises. If you suspect argininosuccinic aciduria, it is advisable to consult a healthcare professional who can initiate the appropriate diagnostic tests and provide guidance on management strategies.

Arginosuccinic aciduria, classified under ICD-10 code E72.22, is a rare genetic disorder that affects the body's ability to process certain proteins. This condition is part of a group of disorders known as urea cycle disorders, which result from a deficiency in one of the enzymes responsible for the urea cycle. In the case of arginosuccinic aciduria, the deficiency is in the enzyme arginosuccinate lyase, leading to the accumulation of arginosuccinic acid and other toxic metabolites in the body.

Standard Treatment Approaches

1. Dietary Management

One of the primary treatment strategies for arginosuccinic aciduria involves dietary modifications. The goal is to limit the intake of protein, which can help reduce the levels of ammonia and other toxic substances in the blood. Key dietary interventions include:

• Low-Protein Diet: Patients are often placed on a low-protein diet to minimize the intake of amino acids that cannot be effectively processed due to the enzyme deficiency. This diet is typically supplemented with essential amino acids to ensure adequate nutrition.
• Specialized Medical Foods: These are formulated to provide necessary nutrients while restricting protein intake. They often contain amino acids in a form that is easier for the body to utilize without overwhelming the urea cycle.

2. Medications

Medications may be prescribed to help manage symptoms and reduce the levels of toxic metabolites:

• Arginine Supplementation: Since arginine is a substrate for the urea cycle, supplementation can help bypass the metabolic block and promote the excretion of ammonia.
• Nitrogen Scavengers: Drugs such as sodium phenylbutyrate or glycerol phenylbutyrate may be used to help remove excess nitrogen from the body, thereby reducing ammonia levels.

3. Emergency Management

In cases of metabolic crisis, which can occur due to illness, stress, or excessive protein intake, immediate medical intervention is crucial:

• Hospitalization: Patients may require hospitalization for acute management, including intravenous fluids and medications to lower ammonia levels.
• Dialysis: In severe cases, dialysis may be necessary to remove excess ammonia and other toxic substances from the bloodstream.

4. Genetic Counseling

Given that arginosuccinic aciduria 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 the implications of the disorder.

5. Regular Monitoring

Ongoing monitoring of metabolic status is essential for managing arginosuccinic aciduria effectively. This includes:

• Regular Blood Tests: To monitor ammonia levels and other metabolites.
• Nutritional Assessments: To ensure that dietary restrictions are not leading to deficiencies in essential nutrients.

Conclusion

The management of arginosuccinic aciduria requires a comprehensive approach that includes dietary modifications, medication, emergency care, genetic counseling, and regular monitoring. Early diagnosis and intervention are critical to prevent complications and improve the quality of life for individuals affected by this condition. Collaboration with a multidisciplinary team, including metabolic specialists, dietitians, and genetic counselors, is essential for optimal care.