Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations. More detailed information about the symptoms, causes, and treatments of Homocystinuria due to cystathionine beta-synthase deficiency is available below.
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Prognosis for Homocystinuria due to cystathionine beta-synthase deficiency: The range and severity of symptoms and manifestations can vary considerably depending on whether the condition is diagnosed in a timely manner and whether treatment is adhered to. Patients that respond to vitamin B6 tend to fare better as they're condition is able to be managed better and complications can be avoided.
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Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Homocystinuria due to cystathionine beta-synthase deficiency as a "rare disease".
Source - Orphanet
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