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Meta Description: Homocystinuria is a collection of hereditary metabolic disorders which can be characterized by accumulation of homocysteine in the serum and a high level excretion of homocystine in urine. Cystathionine β-synthase deficiency is the most frequent cause of homocystinuria.
Homocystinuria is a collection of hereditary metabolic disorders which can be characterized by accumulation of homocysteine in the serum and a high level excretion of homocystine in urine. Cystathionine β-synthase deficiency is the most frequent cause of homocystinuria which will lead to mental retardation, developmental delay, ectopia lentis, skeletal abnormalities severe myopia or thromboembolism.
Severity of this homocystinuria is determined mostly by underlying hereditary defect. Patients with milder forms of Cystathionine β-synthase deficiency generally respond to chemotherapy by pyridoxine. It will show marked decrease in complete homocysteine plasma levels. B6-responsive homocystinuria generally shows mild clinical symptoms than the non-responsive variant.
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