Propionic acidemia

This code identifies a rare, inherited metabolic disorder characterized by the body's inability to properly process certain proteins and fats. Specifically, it involves a deficiency in the enzyme propionyl-CoA carboxylase, leading to the accumulation of propionic acid and other toxic compounds in the blood and urine. This can result in severe metabolic acidosis, neurological complications, and organ damage.

Use this code for patients diagnosed with propionic acidemia, typically identified through newborn screening or presenting with symptoms such as vomiting, lethargy, developmental delay, or seizures. Documentation should clearly state the diagnosis of propionic acidemia, often confirmed by biochemical testing (e.g., elevated propionic acid levels, enzyme assay).

• Ensure documentation specifies "propionic acidemia" to differentiate from other organic acidemias.
• Consider co-reporting codes for associated manifestations, such as metabolic acidosis (E87.2) or developmental delays (F88).
• Do not confuse with other organic acidemias like methylmalonic acidemia (E71.120) or isovaleric acidemia (E71.110).