Other disorders of fatty-acid oxidation
ICD-10 E71.318 is a billable code used to indicate a diagnosis of other disorders of fatty-acid oxidation.
Disorders of fatty-acid oxidation encompass a group of inherited metabolic conditions that disrupt the body's ability to break down fatty acids into energy. These disorders are primarily caused by enzyme deficiencies that affect the oxidation of long-chain fatty acids, leading to an accumulation of fatty acids and toxic metabolites in the body. Symptoms can vary widely, ranging from mild to severe, and may include hypoglycemia, muscle weakness, cardiomyopathy, and liver dysfunction. The clinical presentation often depends on the specific enzyme deficiency involved, with some patients experiencing acute metabolic crises triggered by fasting or illness. Diagnosis typically involves biochemical testing, genetic testing, and clinical evaluation. Management strategies may include dietary modifications, supplementation with medium-chain triglycerides, and careful monitoring of metabolic status. Early diagnosis and intervention are crucial to prevent serious complications and improve quality of life.
Detailed family history, growth and development assessments, and metabolic screening results.
Infants presenting with hypoglycemia, failure to thrive, or unexplained metabolic acidosis.
Consideration of newborn screening results and early intervention strategies.
Genetic testing results, family pedigree, and detailed clinical assessments.
Patients with a family history of metabolic disorders presenting with symptoms suggestive of fatty-acid oxidation defects.
Documentation of genetic counseling and implications for family members.
Used when genetic testing is performed to confirm a fatty-acid oxidation disorder.
Documentation of clinical indications for testing and results.
Genetic counseling may be necessary for family members.
Common symptoms include hypoglycemia, muscle weakness, cardiomyopathy, and liver dysfunction, often triggered by fasting or illness.
Diagnosis typically involves biochemical testing to assess enzyme activity and genetic testing to identify specific mutations.
