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Navigating thrombotic terrain: unveiling a novel homocystinuria mutation associated with thrombophilia in a 16 year old
- Source :
- Bulletin of the National Research Centre, Vol 48, Iss 1, Pp 1-3 (2024)
- Publication Year :
- 2024
- Publisher :
- SpringerOpen, 2024.
-
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 boy 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 improvement, but financial constraints hindered follow-up. Conclusions This case highlights the complexities of diagnosing and treating paediatric 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.
- Subjects :
- Anticoagulation
Methylcobalamin
MTHFR
Thrombophilia
Thrombosis
Science
Subjects
Details
- Language :
- English
- ISSN :
- 25228307
- Volume :
- 48
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Bulletin of the National Research Centre
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.8339092a46a845ce8468ea41ad203970
- Document Type :
- article
- Full Text :
- https://doi.org/10.1186/s42269-024-01198-y