Disorders of lysine and hydroxylysine metabolism

This code represents a group of rare, inherited metabolic disorders characterized by the body's inability to properly break down or utilize the amino acids lysine and hydroxylysine. These enzymatic deficiencies lead to the accumulation of toxic metabolites, which can affect various organ systems, particularly the neurological system.

Use this code when documentation specifies a diagnosis of a disorder related to lysine or hydroxylysine metabolism, such as hyperlysinemia, saccharopinuria, or glutaric aciduria type I. Supporting documentation should include genetic testing results, elevated levels of lysine or related metabolites in blood or urine, and clinical signs consistent with these conditions.

• Carefully review documentation to differentiate between specific types of glutaric aciduria; glutaric aciduria type II is an Excludes1 note.
• Ensure that Refsum's disease and Zellweger syndrome are not present, as these are also Excludes1 conditions.
• Always sequence this code as a primary diagnosis when it is the reason for the encounter, unless another condition is explicitly identified as the underlying cause.