Long chain/very long chain acyl CoA dehydrogenase deficiency

This code identifies a rare autosomal recessive metabolic disorder characterized by the body's inability to break down certain fats (long-chain fatty acids) into energy. This deficiency in the LCAD/VLCAD enzyme leads to an accumulation of these fatty acids, which can be toxic to various organs, particularly the heart, liver, and muscles.

Use this code for patients diagnosed with long-chain or very long-chain acyl-CoA dehydrogenase deficiency, confirmed through biochemical testing (e.g., acylcarnitine profile, enzyme assay) or genetic testing. This diagnosis is often made via newborn screening or in individuals presenting with symptoms such as cardiomyopathy, hepatopathy, hypoglycemia, or muscle weakness.

• Ensure documentation clearly specifies "long chain" or "very long chain" to differentiate from other fatty acid oxidation disorders.
• Consider co-reporting codes for associated manifestations, such as cardiomyopathy (I42.-) or hypoglycemia (E16.2).
• This code is highly specific; avoid using more general unspecified metabolic disorder codes when this precise diagnosis is documented.