Phenylketonuria [PKU]

This code represents phenylketonuria (PKU), an inherited metabolic disorder characterized by the body's inability to properly metabolize phenylalanine, an amino acid. Without treatment, phenylalanine builds up in the body, leading to intellectual disability and other neurological problems.

Use this code for patients diagnosed with PKU, typically identified through newborn screening programs. Documentation should clearly state the diagnosis of phenylketonuria, often including details of ongoing dietary management or neurological sequelae if present.

• Ensure documentation specifies "phenylketonuria" to differentiate from other amino acid metabolism disorders.
• Consider additional codes for any associated intellectual disability or neurological manifestations.
• This is a lifelong condition; use this code for ongoing management and follow-up care.