Methylmalonic acidemia

This code represents methylmalonic acidemia, a rare, inherited metabolic disorder characterized by the body's inability to properly process certain proteins and fats. This leads to an accumulation of methylmalonic acid and other toxic compounds in the blood and urine, causing a range of symptoms affecting multiple organ systems.

Assign this code for patients diagnosed with methylmalonic acidemia, typically identified through newborn screening or presenting with symptoms such as feeding difficulties, vomiting, lethargy, developmental delay, or seizures. Documentation should clearly state the diagnosis of methylmalonic acidemia, often confirmed by elevated methylmalonic acid levels in biochemical tests.

• Ensure documentation specifies "methylmalonic acidemia" and not a related but distinct organic acidemia.
• Consider sequencing this code as the primary diagnosis when it is the main reason for the encounter.
• Look for associated manifestations or complications, such as kidney disease or neurological impairment, and code them additionally.