Citrullinemia
ICD-10 E72.23 is a billable code used to indicate a diagnosis of citrullinemia.
Citrullinemia is a rare genetic metabolic disorder characterized by a deficiency of the enzyme argininosuccinate synthetase, which is crucial for the urea cycle. This enzyme deficiency leads to an accumulation of citrulline in the blood and a deficiency of arginine, resulting in hyperammonemia, which can cause severe neurological damage if not treated promptly. Symptoms often present in infancy or early childhood and may include vomiting, lethargy, irritability, and seizures. In some cases, individuals may experience episodes of metabolic decompensation triggered by illness, fasting, or high-protein intake. Long-term management typically involves dietary restrictions to limit protein intake and supplementation with arginine to help manage ammonia levels. Early diagnosis through newborn screening programs is critical for improving outcomes, as timely intervention can prevent severe complications associated with elevated ammonia levels.
Detailed clinical history, including onset of symptoms and dietary management.
Infants presenting with vomiting and lethargy, requiring metabolic workup.
Close monitoring of growth and development in affected children.
Genetic testing results and family history of metabolic disorders.
Counseling families with a history of citrullinemia or related disorders.
Understanding of inheritance patterns and implications for siblings.
Used when confirming a diagnosis of citrullinemia through genetic analysis.
Document the necessity of genetic testing based on clinical presentation.
Genetic specialists should ensure comprehensive family history is included.
Primary symptoms include vomiting, lethargy, irritability, and seizures, particularly during metabolic crises.
Diagnosis is typically made through newborn screening tests that reveal elevated citrulline levels, followed by confirmatory genetic testing.
Management includes dietary restrictions to limit protein intake and supplementation with arginine to help manage ammonia levels.
