Homocystinemia: Causes, Symptoms, Diagnosis, and Treatment - Biochemistry and Genetics

Explore the intricacies of homocystinemia (homocystinuria) in this comprehensive 22-minute video from Medicosis Perfectionalis. Delve into the autosomal recessive genetic condition characterized by elevated serum homocysteine and high levels of urine homocysteine. Learn about its various manifestations, including intellectual disability, eye lens subluxation/dislocation, joint disease, atherosclerosis, hyperlipidemia, and hypercoagulability. Discover the increased risks associated with the condition, such as heart attacks, strokes, deep vein thrombosis, and pulmonary embolism. Examine other symptoms like skin hyperelasticity, cataracts, fatty liver disease, marfanoid habitus, osteoporosis, arachnodactyly, pectus excavatum, and Budd-Chiari syndrome. Understand the role of enzymes like cystathionine synthase, methionine synthase, and MTHF reductase in the disease process. Explore the importance of vitamins B6 (pyridoxine), B9 (folate), and B12 (cobalamin) in managing the condition. Gain valuable insights into the causes, symptoms, diagnosis, and treatment of homocystinemia from a biochemistry and genetics perspective.