Environmental influences on familial discordance of phenotype in homocystinuria
Author Information
Author(s): Maillot Francois, Kraus Jan P, Lee Philip J
Primary Institution: Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Hypothesis
Non-heritable factors may influence the clinical expression of monogenic inherited metabolic diseases.
Conclusion
The phenotype of people with homocystinuria can vary within a family, influenced by both genotype and treatment.
Supporting Evidence
- The mother had a late diagnosis of homocystinuria and was treated successfully with pyridoxine.
- The son exhibited different clinical outcomes despite having a familial genetic condition.
- Early screening and treatment for homocystinuria can significantly alter clinical outcomes.
Takeaway
Sometimes, family members can have different health problems even if they have the same genetic condition, and how they are treated can make a big difference.
Methodology
Case report detailing the clinical history and treatment of a mother and her son with homocystinuria.
Limitations
The study is based on a single case report, limiting generalizability.
Participant Demographics
The case involves a mother and her two sons, with specific details on their health conditions.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website