Disorders of propionate metabolism
ICD-10 E71.12 is a billable code used to indicate a diagnosis of disorders of propionate metabolism.
Disorders of propionate metabolism encompass a group of inherited metabolic conditions characterized by the body's inability to properly metabolize propionic acid, a byproduct of certain amino acids and fatty acids. These disorders are primarily due to deficiencies in specific enzymes, such as propionyl-CoA carboxylase, which is crucial for converting propionyl-CoA to methylmalonyl-CoA. The accumulation of propionic acid can lead to metabolic acidosis, neurological impairment, and other systemic complications. Symptoms often present in infancy or early childhood and may include vomiting, lethargy, hypotonia, and developmental delays. Diagnosis typically involves biochemical testing to measure organic acids in urine and plasma, alongside genetic testing to identify specific enzyme deficiencies. Management strategies focus on dietary restrictions to limit protein intake, supplementation with carnitine, and in some cases, emergency interventions during metabolic crises. Early diagnosis and intervention are critical to improving outcomes and preventing severe complications.
Detailed growth and developmental assessments, metabolic crisis management plans, and dietary interventions.
Infants presenting with metabolic acidosis, failure to thrive, or developmental delays.
Close monitoring of dietary intake and metabolic status is essential for accurate coding.
Genetic testing results, family history of metabolic disorders, and counseling notes.
Patients with a family history of metabolic disorders undergoing testing for propionate metabolism issues.
Documentation must clearly link genetic findings to clinical symptoms for accurate coding.
Used when confirming a diagnosis of propionic acidemia through genetic testing.
Document the rationale for testing and results in the medical record.
Genetic counseling notes should be included for comprehensive documentation.
Common symptoms include vomiting, lethargy, hypotonia, developmental delays, and metabolic acidosis, particularly during metabolic crises.
