Other disorders of fatty-acid metabolism
ICD-10 E71.39 is a billable code used to indicate a diagnosis of other 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 due to enzyme deficiencies or genetic mutations. These disorders can lead to the accumulation of toxic metabolites, resulting in various clinical manifestations such as hypoglycemia, muscle weakness, cardiomyopathy, and neurological deficits. Common examples include medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Patients may present with symptoms such as vomiting, lethargy, and failure to thrive, particularly during periods of fasting or illness. Diagnosis typically involves biochemical testing to measure acylcarnitine levels and genetic testing to identify specific enzyme deficiencies. Management strategies often include dietary modifications, supplementation with medium-chain triglycerides, and careful monitoring to prevent metabolic crises. The complexity of these disorders necessitates a multidisciplinary approach involving metabolic specialists, dietitians, and genetic counselors.
Detailed family history, growth parameters, and metabolic screening results.
Infants presenting with hypoglycemia or failure to thrive.
Consideration of newborn screening results and follow-up testing.
Genetic testing results, family pedigree, and clinical findings.
Patients with a family history of metabolic disorders or unexplained neurological symptoms.
Documentation of genetic counseling sessions and implications for family members.
Used when a patient is suspected of having a fatty-acid metabolism disorder.
Documentation of clinical symptoms and family history.
Genetic counseling may be necessary for family members.
Common symptoms include hypoglycemia, muscle weakness, cardiomyopathy, and neurological issues, particularly during periods of fasting or illness.
Diagnosis typically involves biochemical testing to measure acylcarnitine levels and genetic testing to identify specific enzyme deficiencies.
