Defects of catalase and peroxidase

This code identifies inherited metabolic disorders characterized by deficiencies in the enzymes catalase and/or peroxidase. These enzyme defects impair the body's ability to break down hydrogen peroxide, leading to oxidative stress and potential cellular damage. Conditions like acatalasemia (Takahara's disease) and specific types of myeloperoxidase deficiency fall under this category.

Assign this code when documentation explicitly states a diagnosis of acatalasemia, Takahara's disease, or a congenital deficiency of catalase or peroxidase. This typically follows genetic testing or specific enzyme assays confirming the defect. It is appropriate for patients presenting with symptoms related to these enzyme deficiencies, such as recurrent infections or oral gangrene in acatalasemia.

• Ensure documentation clearly specifies a defect or deficiency of catalase or peroxidase, not just abnormal levels.
• Distinguish from acquired enzyme deficiencies, which would be coded differently if a specific cause is identified.
• Consider sequencing this code as a primary diagnosis if it is the reason for the encounter, or as a secondary diagnosis if it is a co-morbidity impacting care.