Long chain/very long chain acyl CoA dehydrogenase deficiency
ICD-10 E71.310 is a billable code used to indicate a diagnosis of long chain/very long chain acyl coa dehydrogenase deficiency.
Long chain/very long chain acyl CoA dehydrogenase deficiency (LCAD deficiency) is a rare inherited metabolic disorder that affects the body's ability to break down certain fats for energy. This condition is caused by a deficiency of the enzyme long chain acyl-CoA dehydrogenase, which is crucial for the oxidation of long-chain fatty acids. Individuals with LCAD deficiency may experience a range of symptoms, including hypoglycemia, muscle weakness, cardiomyopathy, and episodes of metabolic crisis, particularly during periods of fasting or illness. The disorder is typically diagnosed through newborn screening programs, biochemical tests, and genetic testing. Management of LCAD deficiency involves dietary modifications, including a high-carbohydrate, low-fat diet, and the avoidance of fasting. Patients may also require supplementation with medium-chain triglycerides (MCTs) to provide an alternative energy source. Early diagnosis and intervention are critical to prevent severe complications and improve quality of life.
Detailed history of metabolic crises, dietary management, and growth parameters.
Newborn screening positive for LCAD deficiency, management of metabolic crises.
Close monitoring of growth and development, as well as dietary adherence.
Genetic testing results, family history of metabolic disorders.
Counseling families with a history of LCAD deficiency, interpreting genetic test results.
Understanding of inheritance patterns and implications for family members.
Used when confirming a diagnosis of LCAD deficiency through genetic testing.
Documentation of clinical suspicion and rationale for genetic testing.
Genetic counseling may be necessary for families.
Common symptoms include hypoglycemia, muscle weakness, cardiomyopathy, and episodes of metabolic crisis, particularly during fasting or illness.
