Medium chain acyl CoA dehydrogenase deficiency

This code identifies a specific inherited metabolic disorder where the body is unable to break down certain fats (medium-chain fatty acids) into energy. This deficiency in the MCAD enzyme can lead to serious health problems, particularly during periods of fasting or illness, due to insufficient energy production and accumulation of toxic byproducts.

Use this code for patients diagnosed with Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency, typically confirmed through newborn screening, genetic testing, or enzyme assays. It is appropriate when documenting the primary diagnosis for ongoing management, acute metabolic crises, or follow-up care related to this specific inborn error of metabolism.

• Differentiate from other fatty acid oxidation disorders; this code is specific to MCAD deficiency.
• Ensure documentation clearly states "medium chain acyl CoA dehydrogenase deficiency" or "MCAD deficiency."
• Consider sequencing with codes for any associated manifestations or complications, such as hypoglycemia or liver dysfunction.