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单词 Cystathionine beta synthase deficiency
释义

Cystathionine beta synthase deficiency

中文百科

高胱胺酸尿症 Homocystinuria

(重定向自Cystathionine beta synthase deficiency)

高胱胺酸尿症英语:Homocystinuria)是一种遗传病,其会导致体内堆积甲硫胺酸、高胱胺酸、高半胱胺酸及复合双硫化合物,造成智能不足、骨骼畸型、心脏血管疾病等。

此遗传病的发生率约为20万分之1。

遗传方面,其遗传方式为体染色体隐性遗传。

英语百科

Homocystinuria 高胱胺酸尿症

(重定向自Cystathionine beta synthase deficiency)

Classical homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected.

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更新时间:2025/6/20 15:08:40