Galactosemia

This code identifies a rare, inherited metabolic disorder where the body is unable to properly metabolize galactose, a sugar found in dairy products and other foods. The deficiency of specific enzymes leads to the accumulation of galactose-1-phosphate in tissues, causing a range of symptoms.

Use this code for patients diagnosed with classic galactosemia, which is typically identified through newborn screening or presents with symptoms such as feeding difficulties, lethargy, jaundice, and liver damage in infancy. Documentation should clearly state the diagnosis of galactosemia, often supported by enzyme assays or genetic testing results.

• Ensure documentation specifies "galactosemia" and not a general carbohydrate metabolism disorder.
• Consider additional codes for any associated manifestations or complications, such as cataracts (H28), intellectual disabilities (F70-F79), or liver disease (K70-K77).
• This code is typically a primary diagnosis when the patient is being treated for the underlying metabolic condition.