Methylenetetrahydrofolate reductase deficiency

This code identifies a genetic metabolic disorder characterized by a deficiency in the methylenetetrahydrofolate reductase (MTHFR) enzyme. This deficiency impairs the body's ability to process folate, leading to elevated homocysteine levels and potential neurological, cardiovascular, and developmental issues.

Use this code for patients diagnosed with MTHFR deficiency, typically confirmed through genetic testing or enzyme activity assays. Documentation should clearly state the diagnosis of MTHFR deficiency and may include details about associated symptoms or complications.

• Ensure documentation specifies "deficiency" as opposed to a genetic variant or polymorphism without clinical manifestation.
• Consider co-reporting codes for associated conditions such as hyperhomocysteinemia (E72.11) or specific neurological complications.
• This code is for the deficiency itself, not merely the presence of an MTHFR gene mutation if the patient is asymptomatic or not clinically affected.