E72.23 Citrullinemia

ICD10CM code

#### Name of the Condition
- Citrullinemia (also known as classic citrullinemia or argininosuccinate synthetase deficiency)

#### Summary
- Citrullinemia is a rare genetic disorder affecting the urea cycle, where the body cannot properly remove ammonia from the blood. This results in elevated levels of ammonia, which is toxic and can lead to severe health issues.

#### Causes
- Citrullinemia is caused by mutations in the ASS1 gene, which encodes the enzyme argininosuccinate synthetase essential for the urea cycle. It is an autosomal recessive condition, meaning a child must inherit two copies of the mutated gene to be affected.

#### Risk Factors
- Having parents who are both carriers of the mutated gene increases the risk. There is no known lifestyle or environmental risk factor.

#### Symptoms
- Symptoms include lethargy, poor appetite, vomiting, seizures, developmental delays, and in severe cases, coma attributed to ammonia accumulation.

#### Diagnosis
- Newborn screening, blood tests showing high levels of ammonia and citrulline, genetic testing to confirm mutations in the ASS1 gene.

#### Treatment Options
- Low-protein diet with amino acid supplements to limit ammonia production.
- Medications such as sodium benzoate to help remove ammonia.
- In severe cases, liver transplantation may be considered as a treatment option.

#### Prognosis and Follow-Up
- With early diagnosis and proper management, individuals can lead relatively normal lives.
- Regular follow-ups with a healthcare provider are essential to monitor ammonia levels and ensure dietary compliance.

#### Complications
- If left untreated, citrullinemia can lead to intellectual disability, neurological damage, and death due to high ammonia levels.

#### Lifestyle & Prevention
- Adhering to a prescribed low-protein diet can help manage the condition.
- Genetic counseling for families with a history of citrullinemia can help assess risk and aid in family planning.

#### When to Seek Professional Help
- Immediate medical attention is required if there are signs of high ammonia levels, such as vomiting, lethargy, or seizures, especially in an infant.

#### Additional Resources
- National Urea Cycle Disorders Foundation (NUCDF)
- Genetic and Rare Diseases Information Center (GARD)

#### Tips for Medical Coders
- Ensure accurate coding by confirming a genetic test or clinical diagnosis of citrullinemia.
- Be cautious of potential miscommunication about urea cycle disorders; verify the exact type for specific ICD coding.

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