3-methylglutaconic aciduria
ICD-10 E71.111 is a billable code used to indicate a diagnosis of 3-methylglutaconic aciduria.
3-methylglutaconic aciduria is a rare metabolic disorder characterized by the accumulation of 3-methylglutaconic acid in the urine due to a deficiency in the enzyme 3-methylglutaconyl-CoA hydratase. This condition is part of a group of disorders known as organic acidemias, which are caused by defects in the metabolism of amino acids and organic acids. Patients with this disorder may present with a variety of symptoms, including developmental delays, muscle weakness, and neurological issues. The condition can be inherited in an autosomal recessive pattern, and genetic testing can confirm the diagnosis by identifying mutations in the related genes. Early diagnosis and management are crucial to prevent complications, and treatment typically involves dietary modifications and supplementation to manage symptoms and reduce acid accumulation. Regular monitoring and supportive care are essential for optimizing patient outcomes.
Detailed family history and genetic testing results must be documented.
Patients presenting with developmental delays and metabolic abnormalities.
Ensure that genetic testing results are clearly linked to the diagnosis.
Growth and developmental milestones should be documented alongside metabolic assessments.
Infants and children presenting with unexplained neurological symptoms.
Document any dietary interventions and their effects on the patient's condition.
Used when confirming a diagnosis of 3-methylglutaconic aciduria through genetic analysis.
Document the specific genes tested and the results.
Genetic specialists should ensure that family history is included.
Common symptoms include developmental delays, muscle weakness, and neurological issues. Patients may also experience metabolic crises.
