Medium chain acyl CoA dehydrogenase deficiency
ICD-10 E71.311 is a billable code used to indicate a diagnosis of medium chain acyl coa dehydrogenase deficiency.
Medium chain acyl CoA dehydrogenase (MCAD) deficiency is a genetic metabolic disorder characterized by the inability to properly metabolize medium-chain fatty acids due to a deficiency of the enzyme MCAD. This enzyme is crucial for the breakdown of fatty acids into energy, particularly during fasting or periods of increased energy demand. Patients with MCAD deficiency may present with symptoms such as hypoglycemia, vomiting, lethargy, and in severe cases, can progress to coma or sudden death, particularly in infants and young children. The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for the disorder to manifest. Diagnosis is typically confirmed through newborn screening programs, which measure acylcarnitine levels in the blood. Management involves dietary modifications to avoid fasting and the use of medium-chain triglycerides as an energy source. Early detection and intervention are critical to prevent serious complications.
Detailed clinical history, including family history and newborn screening results.
Infants presenting with hypoglycemia or metabolic crises.
Ensure documentation reflects the urgency of dietary management and monitoring.
Genetic testing results and family pedigree charts.
Counseling families about inheritance patterns and risks.
Accurate coding of genetic testing and counseling services.
Used when confirming a diagnosis of MCAD deficiency.
Document the reason for testing and results.
Genetic counseling may be necessary for family members.
Common symptoms include hypoglycemia, vomiting, lethargy, and in severe cases, coma. Symptoms often occur during fasting or illness.
Diagnosis is typically made through newborn screening tests that measure acylcarnitine levels, followed by confirmatory genetic testing.
Management includes dietary modifications to prevent fasting, use of medium-chain triglycerides, and regular monitoring of metabolic status.
