Disorder of fatty-acid metabolism, unspecified
ICD-10 E71.30 is a billable code used to indicate a diagnosis of disorder of fatty-acid metabolism, unspecified.
Disorders of fatty-acid metabolism encompass a range of genetic and metabolic conditions that affect the body's ability to metabolize fatty acids properly. These disorders can lead to an accumulation of fatty acids in the body, resulting in various clinical manifestations, including hypoglycemia, muscle weakness, cardiomyopathy, and liver dysfunction. The specific enzyme deficiencies involved in these disorders can vary, leading to different clinical presentations and severity. Commonly affected enzymes include acyl-CoA dehydrogenases, which are crucial for the oxidation of fatty acids. Patients may present with symptoms such as fatigue, recurrent vomiting, and failure to thrive in infancy. Diagnosis often involves biochemical testing, including acylcarnitine profiling and urine organic acid analysis. Genetic testing may also be employed to identify specific mutations associated with the disorder. Due to the broad nature of this code, it is essential for coders to ensure that the documentation supports the diagnosis of a fatty-acid metabolism disorder, as the unspecified nature of the code may lead to ambiguity in clinical scenarios.
Detailed clinical history, including growth parameters and symptomatology.
Infants presenting with failure to thrive or metabolic crises.
Documentation must include metabolic screening results and any genetic testing performed.
Genetic testing results and family history of metabolic disorders.
Patients with a family history of metabolic disorders undergoing evaluation.
Ensure that genetic counseling notes are included in the documentation.
Used when genetic testing is performed to confirm a fatty-acid metabolism disorder.
Documentation of clinical indications for genetic testing.
Genetic specialists should ensure comprehensive family history is documented.
Common symptoms include hypoglycemia, muscle weakness, cardiomyopathy, and recurrent vomiting, particularly in infants and children.
