Homocystinuria
Pathogenesis
- Cystathionine Beta-Synthase deficiency prevents homocysteine from being appropriately used and results in toxic accumulation of homocysteine (and its byproducts) and homocystinuria.
Clinical
- Onset: Infancy
- Systemic manifestations: Myopia, Lens Dislocation, Megaloblastic Anemia (w/abnormal bleeding), Osteoporosis, and additional musculoskeletal manifestations.
Genetics
- Multiple genes, including MTHFR (Methylene tetrahydrofolate reductase)
- Autosomal recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov