Methylenetetrahydrofolate reductase deficiency
ICD-10 E72.12 is a billable code used to indicate a diagnosis of methylenetetrahydrofolate reductase deficiency.
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a genetic metabolic disorder characterized by a deficiency of the MTHFR enzyme, which plays a crucial role in the metabolism of folate and the conversion of homocysteine to methionine. This deficiency can lead to elevated levels of homocysteine in the blood, which is associated with various health issues, including cardiovascular diseases, neural tube defects in pregnancy, and other complications. The condition is inherited in an autosomal recessive manner, meaning that both copies of the MTHFR gene must be mutated for the deficiency to manifest. Symptoms can vary widely, with some individuals being asymptomatic while others may experience developmental delays, psychiatric disorders, or vascular problems. Diagnosis typically involves genetic testing and measurement of homocysteine levels. Management may include dietary modifications, supplementation with folate, and monitoring of homocysteine levels to mitigate associated risks.
Detailed family history, genetic test results, and clinical findings.
Patients presenting with unexplained developmental delays or family history of MTHFR deficiency.
Ensure comprehensive documentation of genetic counseling and testing outcomes.
Cardiovascular risk assessment, homocysteine levels, and management plans.
Patients with elevated homocysteine levels presenting with cardiovascular symptoms.
Document any interventions or lifestyle modifications recommended to manage cardiovascular risk.
Used when a patient presents with symptoms suggestive of MTHFR deficiency.
Document the clinical rationale for testing and any relevant family history.
Genetic counseling may be necessary before and after testing.
Common symptoms can include developmental delays, psychiatric disorders, cardiovascular issues, and complications during pregnancy, such as recurrent miscarriages or neural tube defects.
