Disturbances of branched-chain amino-acid metabolism

This code signifies a group of rare genetic disorders affecting the body's ability to break down specific amino acids with branched structures, such as leucine, isoleucine, and valine. These metabolic errors lead to the accumulation of toxic byproducts, which can cause severe neurological damage and other systemic issues if untreated.

Use this code for documented diagnoses of conditions like Maple Syrup Urine Disease (MSUD), isovaleric acidemia, or propionic acidemia, which are characterized by impaired metabolism of branched-chain amino acids. Documentation should clearly state the specific branched-chain amino acid disorder identified through metabolic screening or diagnostic testing.

• Ensure the documentation specifies a disturbance of branched-chain amino acid metabolism, not just a general amino acid disorder.
• Be mindful of sequencing; if a specific manifestation (e.g., neurological complications) is the primary reason for the encounter, that may be coded first.
• This code is typically used for congenital or inherited metabolic disorders.