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Cystathionine Beta-synthase Deficiency is a Genetic Disorder characterized by the Accumulation of homocysteine due to Impaired conversion to cystathionine, leading to homocystinuria and associated complications like Cardiovascular Disease, Skeletal Abnormalities, and Developmental Delays. Early Diagnosis and Treatment with vitamin B6, betaine, or Dietary Management can mitigate symptoms and improve quality of life.
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