3-methylglutaconic aciduria

This code identifies a specific inborn error of metabolism characterized by elevated levels of 3-methylglutaconic acid in the urine. It is a rare genetic disorder affecting mitochondrial function, often presenting with neurological symptoms, developmental delay, and muscle weakness. The condition is part of a broader group of 3-methylglutaconic acidurias, each with distinct genetic causes and clinical presentations.

Use this code when documentation explicitly states a diagnosis of 3-methylglutaconic aciduria. This diagnosis is typically confirmed through biochemical testing (e.g., urine organic acid analysis) and often genetic testing. Supporting documentation should include physician notes detailing the clinical presentation, diagnostic test results, and the confirmed diagnosis.

• Ensure documentation specifies "3-methylglutaconic aciduria" and not a more general metabolic disorder.
• Do not confuse with other organic acidurias; verify the specific acid mentioned in the diagnosis.
• Sequence as a primary diagnosis when it is the reason for the encounter or hospitalization.