Disorders of fatty-acid metabolism
ICD-10 E71.3 is a billable code used to indicate a diagnosis of disorders of fatty-acid metabolism.
Disorders of fatty-acid metabolism encompass a range of metabolic conditions characterized by the body's inability to properly metabolize fatty acids. These disorders can arise from genetic enzyme deficiencies that disrupt the normal breakdown of fatty acids, leading to an accumulation of fatty acids or their metabolites in the body. Common conditions include medium-chain acyl-CoA dehydrogenase deficiency (MCADD), very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and carnitine palmitoyltransferase deficiencies. Symptoms may vary widely, including hypoglycemia, muscle weakness, cardiomyopathy, and liver dysfunction. Diagnosis typically involves biochemical testing, genetic testing, and clinical evaluation. Management strategies often include dietary modifications, supplementation with carnitine, and avoidance of fasting to prevent metabolic crises. Early diagnosis and intervention are crucial to prevent severe complications and improve patient outcomes.
Detailed family history, growth parameters, and metabolic testing results.
Infants presenting with hypoglycemia or failure to thrive.
Consideration of newborn screening results and early intervention strategies.
Genetic testing results, family pedigree, and clinical manifestations.
Patients with a family history of metabolic disorders or unexplained symptoms.
Documentation of genetic counseling and implications for family members.
Used when genetic testing is performed to confirm a fatty-acid metabolism disorder.
Document the reason for testing and the specific disorder being evaluated.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include hypoglycemia, muscle weakness, cardiomyopathy, and liver dysfunction. Symptoms can vary based on the specific disorder and age of onset.
