Video Infographic : Homocystinuria Infographic
Video
Description
Homocystinuria is a rare, autosomal recessively inherited metabolic disorder. The most common form of the disorder is known as classical homocystinuria and is caused by a missing enzyme known as Cystathionine Beta-Synthase (CBS). This enzyme defect causes a progressive accumulation of homocysteine to toxic levels in the blood. When untreated this disorder is life threatening and has detrimental effects on the brain, the eyes, the skeleton and the vascular system.
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