Hereditary fructose intolerance

This code identifies a genetic metabolic disorder where the body cannot properly break down fructose due to a deficiency in the enzyme aldolase B. Ingesting fructose, sucrose, or sorbitol leads to the accumulation of toxic metabolites, causing symptoms such as hypoglycemia, vomiting, liver damage, and kidney dysfunction. It is an autosomal recessive condition.

Use this code for patients diagnosed with hereditary fructose intolerance, typically confirmed through genetic testing or enzyme assay. This applies to both symptomatic individuals and those identified through family screening who carry the genetic mutation. Documentation should clearly state the diagnosis of hereditary fructose intolerance.

• Do not confuse with other fructose malabsorption issues, which are typically less severe and not genetic.
• Ensure documentation specifies "hereditary" to differentiate from acquired or transient fructose intolerance.
• Consider sequencing with codes for associated complications, such as hypoglycemia (E16.2) or liver failure (K72.90), if present.