Classical Homocystinuria Testimony - Elliott

Описание к видео Classical Homocystinuria Testimony - Elliott

Liz describes her son's journey with Classical homocystinuria (HCU) (Cystathionine Beta Synthase).

Homocystinuria is a rare, autosomal recessive inherited metabolic disorder. Classical homocystinuria 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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