Short chain acyl CoA dehydrogenase deficiency

This code identifies a specific inherited metabolic disorder characterized by the body's inability to properly break down certain fats. It results from a deficiency in the short-chain acyl-CoA dehydrogenase enzyme, leading to an accumulation of fatty acids and their byproducts. Clinically, it can manifest with symptoms such as hypoglycemia, lethargy, muscle weakness, and liver dysfunction.

Use this code when documentation confirms a diagnosis of short-chain acyl-CoA dehydrogenase (SCAD) deficiency. This diagnosis is typically established through newborn screening, genetic testing, or metabolic profiling showing elevated C4 acylcarnitine levels. It is appropriate for both symptomatic and asymptomatic individuals identified with the condition.

• Ensure the documentation explicitly states "short chain" to differentiate from other acyl-CoA dehydrogenase deficiencies.
• Consider sequencing this code as a primary diagnosis when it is the reason for the encounter, especially for management or monitoring of the condition.
• Review for any associated manifestations or complications, such as hypoglycemia (E16.2) or cardiomyopathy (I42.8), and code them accordingly.