Galactosemia

Galactosemia is an inherited metabolic disorder characterized by the body's inability to properly metabolize galactose, a sugar found in milk and dairy products. This deficiency leads to the accumulation of toxic byproducts, which can cause severe damage to organs such as the liver, brain, kidneys, and eyes if left untreated.

This code is used for the diagnosis of galactosemia, typically identified through newborn screening or presenting with symptoms such as jaundice, vomiting, lethargy, or failure to thrive in infants. Documentation should confirm a diagnosis of galactosemia, often supported by enzyme assays or genetic testing.

• Ensure documentation specifies "galactosemia" and not a general carbohydrate metabolism disorder.
• Consider sequencing this code as a primary diagnosis when it is the reason for the encounter.
• Review for any associated complications (e.g., cataracts, developmental delay) that may require additional codes.