Disorders of ornithine metabolism
ICD-10 E72.4 is a billable code used to indicate a diagnosis of disorders of ornithine metabolism.
Disorders of ornithine metabolism are a group of rare genetic metabolic conditions characterized by the body's inability to properly metabolize ornithine, an amino acid that plays a crucial role in the urea cycle. This cycle is essential for removing ammonia from the bloodstream, a toxic byproduct of protein metabolism. Deficiencies in specific enzymes, such as ornithine transcarbamylase (OTC), can lead to an accumulation of ammonia, resulting in hyperammonemia, which can cause neurological damage and other serious health issues. Symptoms may include lethargy, vomiting, seizures, and in severe cases, coma. Diagnosis typically involves biochemical tests to measure ammonia levels and genetic testing to identify specific enzyme deficiencies. Management often includes dietary modifications, ammonia scavengers, and in some cases, liver transplantation. Early diagnosis and intervention are critical to prevent irreversible damage and improve outcomes for affected individuals.
Detailed family history and genetic test results must be documented.
Patients presenting with unexplained hyperammonemia or neurological symptoms.
Genetic counseling may be necessary for family planning and understanding inheritance patterns.
Growth and developmental assessments, along with dietary history.
Infants with failure to thrive or developmental delays.
Monitoring for acute metabolic crises and ensuring timely dietary interventions.
Used when confirming a diagnosis of ornithine metabolism disorder.
Document the clinical rationale for genetic testing and results.
Geneticists should ensure comprehensive family history is included.
Common symptoms include lethargy, vomiting, seizures, and neurological impairment due to elevated ammonia levels.
