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单词 cystathioninuria
释义

cystathioninuria

英汉-汉英词典
胱硫醚尿
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网络短语:
cystathioninuria 胱硫醚尿症
英语百科

Cystathioninuria

Cystathioninuria has an autosomal recessive pattern of inheritance.
Cysteine metabolism. Cystathionine gamma-lyase (cystathionase) catalyzes the lower reaction.

Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder that results in an excess of cystathionine in the urine. It is associated with a congenital dysfunction of the enzyme cystathionase, or acquired deficiency of vitamin B6 which is essential for the function of this enzyme. The latter is usually related to an overall deficiency of all the B-complex vitamins.

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