Disorders of fatty-acid oxidation
ICD-10 E71.31 is a billable code used to indicate a diagnosis of disorders of fatty-acid oxidation.
Disorders of fatty-acid oxidation are a group of inherited metabolic conditions characterized by the body's inability to properly oxidize fatty acids due to enzyme deficiencies. These disorders can lead to the accumulation of fatty acids and their metabolites, resulting in a variety of clinical manifestations. The most common types include Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD), and Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD). Symptoms may range from mild to severe and can include hypoglycemia, muscle weakness, cardiomyopathy, and liver dysfunction. Diagnosis typically involves newborn screening, biochemical analysis of acylcarnitines, and genetic testing to identify specific enzyme deficiencies. Management often includes dietary modifications, avoidance of fasting, and supplementation with medium-chain triglycerides (MCTs) to provide an alternative energy source. Early diagnosis and intervention are crucial to prevent serious complications and improve outcomes.
Detailed history of symptoms, family history of metabolic disorders, results of newborn screening tests.
Newborn presenting with hypoglycemia, child with recurrent vomiting and lethargy.
Ensure documentation reflects the urgency of metabolic crises and interventions taken.
Genetic testing results, family pedigree, and detailed clinical evaluations.
Family history of metabolic disorders, patient undergoing genetic counseling.
Accurate coding requires clear documentation of genetic findings and their implications.
Used when confirming a diagnosis of a specific fatty-acid oxidation disorder.
Documentation of clinical indications for testing and results.
Genetic counseling may be necessary for families.
Common symptoms include hypoglycemia, muscle weakness, cardiomyopathy, and liver dysfunction. Symptoms can vary widely based on the specific enzyme deficiency.
