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单词 Sarcosinuria
释义

Sarcosinuria

英语百科

Sarcosinemia

(重定向自Sarcosinuria)
Sarcosinemia has an autosomal recessive pattern of inheritance.

Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal recessive metabolic disorder characterized by an increased concentration of sarcosine in blood plasma and urine ("sarcosinuria"). It can result from an inborn error of sarcosine metabolism, or from severe folate deficiency related to the folate requirement for the conversion of sarcosine to glycine. It is thought to be a relatively benign condition.

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