Tyrosinemia

Tyrosinemia refers to a group of rare, inherited metabolic disorders characterized by the body's inability to effectively break down the amino acid tyrosine. This leads to an accumulation of tyrosine and its toxic byproducts in the blood and tissues, which can cause severe liver, kidney, and neurological problems. The specific type of tyrosinemia is determined by the deficient enzyme in the tyrosine degradation pathway.

This code is appropriate for documenting a confirmed diagnosis of any form of tyrosinemia, including Type I (hepatorenal), Type II (oculocutaneous), or Type III. Use this code when genetic testing, elevated tyrosine levels, or specific metabolite analysis (e.g., succinylacetone for Type I) confirms the diagnosis. Documentation should clearly state "tyrosinemia" or specify the type if known.

• Do not use this code for isolated elevated tyrosine levels without a confirmed diagnosis of tyrosinemia; consider R79.89 (Other specified abnormal findings of blood chemistry).
• If the specific type of tyrosinemia is documented (e.g., Tyrosinemia Type I), ensure the medical record supports this specificity.
• Code any associated manifestations or complications of tyrosinemia, such as liver failure (K72.90), renal tubular dysfunction (N25.1), or neurological symptoms, as secondary diagnoses.