Homocystinemia (Homocystinuria) - Causes, Symptoms, Diagnosis, Treatment - Biochemistry & Genetics

Homocystinemia (Homocystinuria) is an autosomal recessive genetic condition characterized by elevated serum homocysteine and high levels of urine homocysteine, Intellectual disability, eye lens subluxation/dislocation, joint disease, atherosclerosis, hyperlipidemia, hypercoagulability: increase risk of heart attacks (angina and myocardial infarction) and strokes, deep vein thrombosis (DVT), pulmonary embolism (PE), skin hyperelasticity, cataracts in eye lens, fatty liver disease, marfanoid habitus, osteoporosis, arachnodactyly, pectus excavatum, budd-chiari syndrome, cystathionine synthase, methionine synthase (homocysteine methyltransferase), MTHF reductase, vitamin B6, pyridoxine, vitamin B9, folate, vitamin B12, cobalamin.

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