Maple-syrup-urine disease

This code represents an inherited metabolic disorder characterized by a deficiency in the branched-chain alpha-keto acid dehydrogenase complex, leading to an accumulation of branched-chain amino acids (leucine, isoleucine, valine) and their keto acids in the body. This accumulation results in a distinctive sweet odor in the urine, resembling maple syrup, and can cause severe neurological damage if untreated.

Use this code for patients diagnosed with maple syrup urine disease (MSUD), typically identified through newborn screening or presenting with symptoms such as poor feeding, lethargy, seizures, and developmental delay. Documentation should clearly state the diagnosis of MSUD, often confirmed by biochemical testing showing elevated branched-chain amino acids.

• Ensure documentation specifies the type of MSUD (e.g., classic, intermediate, intermittent) if known, though this code does not differentiate.
• Consider co-occurring neurological complications or developmental delays, which may require additional codes.
• This code is typically a primary diagnosis for patients with confirmed MSUD.