Navigating Thrombotic Terrain: Unveiling a Novel Homocystinuria Mutation Associated with Thrombophilia in a 16-Year-Old: A Case Report

Abstract

Abstract Background: Thrombophilia is characterised by an abnormality of blood coagulation that increases thrombosis. Homocystinuria, encompasses a group of disorders marked by increased levels of homocysteine and other amino acids detectable in the bloodstream and urine. Conversely, homocystinuria due to Methylenetetrahydrofolatereductase (MTHFR) deficiency, a rarer disorder, stems from impaired folate metabolism due to deficient MTHFR enzyme. Case presentation: A 16-year-old presented with walking difficulties, headaches, and thrombotic events, thrombophilia workup led to a diagnosis of Homocystinuria due to a novel mutation in MTHFR gene. Anticoagulant therapy was initiated which showed clinical imrpovement, but financial constraints hindered follow-up. Conclusions: This case highlights the complexities of diagnosing and treating pediatric thrombophilia, particularly in resource-limited settings. Notably, the identified homozygous Autosomal Recessive (AR) missense variation in the MTHFR gene (Exon 4 – c582C>G) represents a novel mutation, suggesting the ongoing significance of genetic research in elucidating the underlying mechanisms of thrombotic disorders.